22q11.2 duplication syndrome: elevated rate of autism spectrum disorder and need for medical screening / T. 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 et/ou numérique Auteurs : T. L. WENGER, Auteur ; J. S. MILLER, Auteur ; L. M. DEPOLO, Auteur ; A. B. DE MARCHENA, Auteur ; Caitlin C. CLEMENTS, Auteur ; B. S. EMANUEL, Auteur ; E. H. ZACKAI, Auteur ; D. 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 et/ou numérique] / T. L. WENGER, Auteur ; J. S. MILLER, Auteur ; L. M. DEPOLO, Auteur ; A. B. DE MARCHENA, Auteur ; Caitlin C. CLEMENTS, Auteur ; B. S. EMANUEL, Auteur ; E. H. ZACKAI, Auteur ; D. 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

Amygdala Volume Differences in Autism Spectrum Disorder Are Related to Anxiety / J. D. HERRINGTON in Journal of Autism and Developmental Disorders, 47-12 (December 2017)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 47-12 (December 2017) . - p.3682-3691 Titre : Amygdala Volume Differences in Autism Spectrum Disorder Are Related to Anxiety Type de document : Texte imprimé et/ou numérique Auteurs : J. D. HERRINGTON, Auteur ; B. B. MADDOX, Auteur ; Connor M. KERNS, Auteur ; K. RUMP, Auteur ; J. A. WORLEY, Auteur ; J. C. BUSH, Auteur ; A. J. MCVEY, Auteur ; Robert T. SCHULTZ, Auteur ; J. S. MILLER, Auteur Année de publication : 2017 Article en page(s) : p.3682-3691 Langues : Anglais (eng) Mots-clés : Amygdala  Anxiety disorders  Brain morphometry  Comorbidity Index. décimale : PER Périodiques Résumé : Recent studies suggest that longstanding findings of abnormal amygdala morphology in ASD may be related to symptoms of anxiety. To test this hypothesis, fifty-three children with ASD (mean age = 11.9) underwent structural MRI and were divided into subgroups to compare those with at least one anxiety disorder diagnosis (n = 29) to those without (n = 24) and to a typically developing control group (TDC; n = 37). Groups were matched on age and intellectual level. The ASD and anxiety group showed decreased right amygdala volume (controlled for total brain volume) relative to ASD without anxiety (p = .04) and TDCs (p = .068). Results suggest that youth with ASD and co-occurring anxiety have a distinct neurodevelopmental trajectory. En ligne : http://dx.doi.org/10.1007/s10803-017-3206-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=325 [article] Amygdala Volume Differences in Autism Spectrum Disorder Are Related to Anxiety [Texte imprimé et/ou numérique] / J. D. HERRINGTON, Auteur ; B. B. MADDOX, Auteur ; Connor M. KERNS, Auteur ; K. RUMP, Auteur ; J. A. WORLEY, Auteur ; J. C. BUSH, Auteur ; A. J. MCVEY, Auteur ; Robert T. SCHULTZ, Auteur ; J. S. MILLER, Auteur . - 2017 . - p.3682-3691. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 47-12 (December 2017) . - p.3682-3691 Mots-clés : Amygdala  Anxiety disorders  Brain morphometry  Comorbidity Index. décimale : PER Périodiques Résumé : Recent studies suggest that longstanding findings of abnormal amygdala morphology in ASD may be related to symptoms of anxiety. To test this hypothesis, fifty-three children with ASD (mean age = 11.9) underwent structural MRI and were divided into subgroups to compare those with at least one anxiety disorder diagnosis (n = 29) to those without (n = 24) and to a typically developing control group (TDC; n = 37). Groups were matched on age and intellectual level. The ASD and anxiety group showed decreased right amygdala volume (controlled for total brain volume) relative to ASD without anxiety (p = .04) and TDCs (p = .068). Results suggest that youth with ASD and co-occurring anxiety have a distinct neurodevelopmental trajectory. En ligne : http://dx.doi.org/10.1007/s10803-017-3206-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=325

Critical region within 22q11.2 linked to higher rate of autism spectrum disorder / Caitlin C. CLEMENTS in Molecular Autism, 8 (2017)  

Public ISBD [article]  inMolecular Autism > 8 (2017) . - 58p. Titre : Critical region within 22q11.2 linked to higher rate of autism spectrum disorder Type de document : Texte imprimé et/ou numérique Auteurs : Caitlin C. CLEMENTS, Auteur ; T. L. WENGER, Auteur ; A. R. ZOLTOWSKI, Auteur ; Jennifer R. BERTOLLO, Auteur ; J. S. MILLER, Auteur ; A. B. DE MARCHENA, Auteur ; L. M. MITTEER, Auteur ; J. C. CAREY, Auteur ; B. E. YERYS, Auteur ; E. H. ZACKAI, Auteur ; B. S. EMANUEL, Auteur ; D. M. MCDONALD-MCGINN, Auteur ; Robert T. SCHULTZ, Auteur Article en page(s) : 58p. Langues : Anglais (eng) Mots-clés : 22q11.2 deletion syndrome  22q11.2 duplication syndrome  Atypical  Autism spectrum disorder  Face processing  Nested  Prosopagnosia  Ranbp1  Screening  Syndromic autism Index. décimale : PER Périodiques Résumé : BACKGROUND: Previous studies have reported no clear critical region for medical comorbidities in children with deletions or duplications of 22q11.2. The purpose of this study was to evaluate whether individuals with small nested deletions or duplications of the LCR-A to B region of 22q11.2 show an elevated rate of autism spectrum disorder (ASD) compared to individuals with deletions or duplications that do not include this region. METHODS: We recruited 46 patients with nested deletions (n = 33) or duplications (n = 13) of 22q11.2, including LCR-A to B (ndel = 11), LCR-A to C (ndel = 4), LCR-B to D (ndel = 14; ndup = 8), LCR-C to D (ndel = 4; ndup = 2), and smaller nested regions (n = 3). Parent questionnaire, record review, and, for a subset, in-person evaluation were used for ASD diagnostic classification. Rates of ASD in individuals with involvement of LCR-B to LCR-D were compared with Fisher's exact test to LCR-A to LCR-B for deletions, and to a previously published sample of LCR-A to LCR-D for duplications. The rates of medical comorbidities and psychiatric diagnoses were determined from questionnaires and chart review. We also report group mean differences on psychiatric questionnaires. RESULTS: Individuals with deletions involving LCR-A to B showed a 39-44% rate of ASD compared to 0% in individuals whose deletions did not involve LCR-A to B. We observed similar rates of medical comorbidities in individuals with involvement of LCR-A to B and LCR-B to D for both duplications and deletions, consistent with prior studies. CONCLUSIONS: Children with nested deletions of 22q11.2 may be at greater risk for autism spectrum disorder if the region includes LCR-A to LCR-B. Replication is needed. En ligne : http://dx.doi.org/10.1186/s13229-017-0171-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=329 [article] Critical region within 22q11.2 linked to higher rate of autism spectrum disorder [Texte imprimé et/ou numérique] / Caitlin C. CLEMENTS, Auteur ; T. L. WENGER, Auteur ; A. R. ZOLTOWSKI, Auteur ; Jennifer R. BERTOLLO, Auteur ; J. S. MILLER, Auteur ; A. B. DE MARCHENA, Auteur ; L. M. MITTEER, Auteur ; J. C. CAREY, Auteur ; B. E. YERYS, Auteur ; E. H. ZACKAI, Auteur ; B. S. EMANUEL, Auteur ; D. M. MCDONALD-MCGINN, Auteur ; Robert T. SCHULTZ, Auteur . - 58p. Langues : Anglais (eng) in Molecular Autism > 8 (2017) . - 58p. Mots-clés : 22q11.2 deletion syndrome  22q11.2 duplication syndrome  Atypical  Autism spectrum disorder  Face processing  Nested  Prosopagnosia  Ranbp1  Screening  Syndromic autism Index. décimale : PER Périodiques Résumé : BACKGROUND: Previous studies have reported no clear critical region for medical comorbidities in children with deletions or duplications of 22q11.2. The purpose of this study was to evaluate whether individuals with small nested deletions or duplications of the LCR-A to B region of 22q11.2 show an elevated rate of autism spectrum disorder (ASD) compared to individuals with deletions or duplications that do not include this region. METHODS: We recruited 46 patients with nested deletions (n = 33) or duplications (n = 13) of 22q11.2, including LCR-A to B (ndel = 11), LCR-A to C (ndel = 4), LCR-B to D (ndel = 14; ndup = 8), LCR-C to D (ndel = 4; ndup = 2), and smaller nested regions (n = 3). Parent questionnaire, record review, and, for a subset, in-person evaluation were used for ASD diagnostic classification. Rates of ASD in individuals with involvement of LCR-B to LCR-D were compared with Fisher's exact test to LCR-A to LCR-B for deletions, and to a previously published sample of LCR-A to LCR-D for duplications. The rates of medical comorbidities and psychiatric diagnoses were determined from questionnaires and chart review. We also report group mean differences on psychiatric questionnaires. RESULTS: Individuals with deletions involving LCR-A to B showed a 39-44% rate of ASD compared to 0% in individuals whose deletions did not involve LCR-A to B. We observed similar rates of medical comorbidities in individuals with involvement of LCR-A to B and LCR-B to D for both duplications and deletions, consistent with prior studies. CONCLUSIONS: Children with nested deletions of 22q11.2 may be at greater risk for autism spectrum disorder if the region includes LCR-A to LCR-B. Replication is needed. En ligne : http://dx.doi.org/10.1186/s13229-017-0171-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=329

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

Public ISBD [article]  inMolecular Autism > 7 (2016) . - 34p. Titre : Erratum to: 22q11.2 duplication syndrome: elevated rate of autism spectrum disorder and need for medical screening Type de document : Texte imprimé et/ou numérique Auteurs : T. L. WENGER, Auteur ; J. S. MILLER, Auteur ; L. M. DEPOLO, Auteur ; A. B. DE MARCHENA, Auteur ; Caitlin C. CLEMENTS, Auteur ; B. S. EMANUEL, Auteur ; E. H. ZACKAI, Auteur ; D. M. MCDONALD-MCGINN, Auteur ; Robert T. SCHULTZ, Auteur Article en page(s) : 34p. Langues : Anglais (eng) Index. décimale : PER Périodiques En ligne : http://dx.doi.org/10.1186/s13229-016-0097-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=329 [article] Erratum to: 22q11.2 duplication syndrome: elevated rate of autism spectrum disorder and need for medical screening [Texte imprimé et/ou numérique] / T. L. WENGER, Auteur ; J. S. MILLER, Auteur ; L. M. DEPOLO, Auteur ; A. B. DE MARCHENA, Auteur ; Caitlin C. CLEMENTS, Auteur ; B. S. EMANUEL, Auteur ; E. H. ZACKAI, Auteur ; D. M. MCDONALD-MCGINN, Auteur ; Robert T. SCHULTZ, Auteur . - 34p. Langues : Anglais (eng) in Molecular Autism > 7 (2016) . - 34p. Index. décimale : PER Périodiques En ligne : http://dx.doi.org/10.1186/s13229-016-0097-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=329

Factors Influencing the Use of Cognitive-Behavioral Therapy with Autistic Adults: A Survey of Community Mental Health Clinicians / B. B. MADDOX in Journal of Autism and Developmental Disorders, 49-11 (November 2019)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 49-11 (November 2019) . - p.4421-4428 Titre : Factors Influencing the Use of Cognitive-Behavioral Therapy with Autistic Adults: A Survey of Community Mental Health Clinicians Type de document : Texte imprimé et/ou numérique Auteurs : B. B. MADDOX, Auteur ; S. R. CRABBE, Auteur ; J. M. FISHMAN, Auteur ; Rinad S. BEIDAS, Auteur ; Lauren BROOKMAN-FRAZEE, Auteur ; J. S. MILLER, Auteur ; C. NICOLAIDIS, Auteur ; D. S. MANDELL, Auteur Article en page(s) : p.4421-4428 Langues : Anglais (eng) Mots-clés : Adults  Autism spectrum disorder  Cognitive-behavioral therapy  Community mental health  Implementation science  Theory of planned behavior Index. décimale : PER Périodiques Résumé : Cognitive-behavioral therapy (CBT) can improve anxiety and depression in autistic adults, but few autistic adults receive this treatment. We examined factors that may influence clinicians' use of CBT with autistic adults. One hundred clinicians completed an online survey. Clinicians reported stronger intentions (p = .001), more favorable attitudes (p < .001), greater normative pressure (p < .001), and higher self-efficacy (p < .001) to start CBT with non-autistic adults than with autistic adults. The only significant predictor of intentions to begin CBT with clients with anxiety or depression was clinicians' attitudes (p < .001), with more favorable attitudes predicting stronger intentions. These findings are valuable for designing effective, tailored implementation strategies to increase clinicians' adoption of CBT for autistic adults. En ligne : http://dx.doi.org/10.1007/s10803-019-04156-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=408 [article] Factors Influencing the Use of Cognitive-Behavioral Therapy with Autistic Adults: A Survey of Community Mental Health Clinicians [Texte imprimé et/ou numérique] / B. B. MADDOX, Auteur ; S. R. CRABBE, Auteur ; J. M. FISHMAN, Auteur ; Rinad S. BEIDAS, Auteur ; Lauren BROOKMAN-FRAZEE, Auteur ; J. S. MILLER, Auteur ; C. NICOLAIDIS, Auteur ; D. S. MANDELL, Auteur . - p.4421-4428. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 49-11 (November 2019) . - p.4421-4428 Mots-clés : Adults  Autism spectrum disorder  Cognitive-behavioral therapy  Community mental health  Implementation science  Theory of planned behavior Index. décimale : PER Périodiques Résumé : Cognitive-behavioral therapy (CBT) can improve anxiety and depression in autistic adults, but few autistic adults receive this treatment. We examined factors that may influence clinicians' use of CBT with autistic adults. One hundred clinicians completed an online survey. Clinicians reported stronger intentions (p = .001), more favorable attitudes (p < .001), greater normative pressure (p < .001), and higher self-efficacy (p < .001) to start CBT with non-autistic adults than with autistic adults. The only significant predictor of intentions to begin CBT with clients with anxiety or depression was clinicians' attitudes (p < .001), with more favorable attitudes predicting stronger intentions. These findings are valuable for designing effective, tailored implementation strategies to increase clinicians' adoption of CBT for autistic adults. En ligne : http://dx.doi.org/10.1007/s10803-019-04156-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=408

Intact prototype formation but impaired generalization in autism / A.H. FROEHLICH in Research in Autism Spectrum Disorders, 6-2 (April-June 2012)  

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Lagging skills contribute to challenging behaviors in children with autism spectrum disorder without intellectual disability / B. B. MADDOX in Autism, 22-8 (November 2018)  

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Profiles of Autonomic Activity in Autism Spectrum Disorder with and without Anxiety / V. PARMA in Journal of Autism and Developmental Disorders, 51-12 (December 2021)  

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Rate and Risk Factors Associated with Autism Spectrum Disorder in Congenital Diaphragmatic Hernia / E. DANZER in Journal of Autism and Developmental Disorders, 48-6 (June 2018)  

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