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

Amygdala Volume Differences in Autism Spectrum Disorder Are Related to Anxiety / John 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 Auteurs : John D. HERRINGTON, Auteur ; Brenna B. MADDOX, Auteur ; Connor M. KERNS, Auteur ; Keiran M. RUMP, Auteur ; Julie A. WORLEY, Auteur ; Jennifer C. BUSH, Auteur ; Alana J. MCVEY, Auteur ; Robert T. SCHULTZ, Auteur ; Judith 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] / John D. HERRINGTON, Auteur ; Brenna B. MADDOX, Auteur ; Connor M. KERNS, Auteur ; Keiran M. RUMP, Auteur ; Julie A. WORLEY, Auteur ; Jennifer C. BUSH, Auteur ; Alana J. MCVEY, Auteur ; Robert T. SCHULTZ, Auteur ; Judith 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

Autism Spectrum Disorder Reclassified: A Second Look at the 1980s Utah/UCLA Autism Epidemiologic Study / Judith S. MILLER in Journal of Autism and Developmental Disorders, 43-1 (January 2013)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 43-1 (January 2013) . - p.200-210 Titre : Autism Spectrum Disorder Reclassified: A Second Look at the 1980s Utah/UCLA Autism Epidemiologic Study Type de document : texte imprimé Auteurs : Judith S. MILLER, Auteur ; Deborah A. BILDER, Auteur ; Megan A. FARLEY, Auteur ; Hilary H. COON, Auteur ; Judith PINBOROUGH-ZIMMERMAN, Auteur ; William R. JENSON, Auteur ; Catherine E. RICE, Auteur ; Eric FOMBONNE, Auteur ; Carmen B. PINGREE, Auteur ; Edward R. RITVO, Auteur ; Ariella R. RITVO, Auteur ; William M. MCMAHON, Auteur Année de publication : 2013 Article en page(s) : p.200-210 Langues : Anglais (eng) Mots-clés : Autism  Epidemiology  Prevalence  Diagnostic criteria  Intellectual disability Index. décimale : PER Périodiques Résumé : The purpose of the present study was to re-examine diagnostic data from a state-wide autism prevalence study (n = 489) conducted in the 1980s to investigate the impact of broader diagnostic criteria on autism spectrum disorder (ASD) case status. Sixty-four (59 %) of the 108 originally 'Diagnosed Not Autistic' met the current ASD case definition. The average IQ estimate in the newly identified group (IQ = 35.58; SD = 23.01) was significantly lower than in the original group (IQ = 56.19 SD = 21.21; t = 5.75; p .0001). Today's diagnostic criteria applied to participants ascertained in the 1980s identified more cases of autism with intellectual disability. The current analysis puts this historic work into context and highlights differences in ascertainment between epidemiological studies performed decades ago and those of today. En ligne : http://dx.doi.org/10.1007/s10803-012-1566-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=187 [article] Autism Spectrum Disorder Reclassified: A Second Look at the 1980s Utah/UCLA Autism Epidemiologic Study [texte imprimé] / Judith S. MILLER, Auteur ; Deborah A. BILDER, Auteur ; Megan A. FARLEY, Auteur ; Hilary H. COON, Auteur ; Judith PINBOROUGH-ZIMMERMAN, Auteur ; William R. JENSON, Auteur ; Catherine E. RICE, Auteur ; Eric FOMBONNE, Auteur ; Carmen B. PINGREE, Auteur ; Edward R. RITVO, Auteur ; Ariella R. RITVO, Auteur ; William M. MCMAHON, Auteur . - 2013 . - p.200-210. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 43-1 (January 2013) . - p.200-210 Mots-clés : Autism  Epidemiology  Prevalence  Diagnostic criteria  Intellectual disability Index. décimale : PER Périodiques Résumé : The purpose of the present study was to re-examine diagnostic data from a state-wide autism prevalence study (n = 489) conducted in the 1980s to investigate the impact of broader diagnostic criteria on autism spectrum disorder (ASD) case status. Sixty-four (59 %) of the 108 originally 'Diagnosed Not Autistic' met the current ASD case definition. The average IQ estimate in the newly identified group (IQ = 35.58; SD = 23.01) was significantly lower than in the original group (IQ = 56.19 SD = 21.21; t = 5.75; p .0001). Today's diagnostic criteria applied to participants ascertained in the 1980s identified more cases of autism with intellectual disability. The current analysis puts this historic work into context and highlights differences in ascertainment between epidemiological studies performed decades ago and those of today. En ligne : http://dx.doi.org/10.1007/s10803-012-1566-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=187

Caregiver perspectives on interventions for behavior challenges in autistic children / Jessica E. TSCHIDA in Research in Autism Spectrum Disorders, 81 (March 2021)  

Public ISBD [article]  inResearch in Autism Spectrum Disorders > 81 (March 2021) . - 101714 Titre : Caregiver perspectives on interventions for behavior challenges in autistic children Type de document : texte imprimé Auteurs : Jessica E. TSCHIDA, Auteur ; Brenna B. MADDOX, Auteur ; Jennifer R. BERTOLLO, Auteur ; Emily S. KUSCHNER, Auteur ; Judith S. MILLER, Auteur ; Thomas H. OLLENDICK, Auteur ; Ross W. GREENE, Auteur ; Benjamin E. YERYS, Auteur Article en page(s) : 101714 Langues : Anglais (eng) Mots-clés : Aggression  Autism  Intervention  Parent  School-age Index. décimale : PER Périodiques Résumé : Background Children with an autism spectrum disorder (ASD) diagnosis have high rates of behaviors such as aggression, oppositional behaviors, and tantrums. Despite effectiveness of interventions for these behavior challenges in a considerable number of autistic children, there is little information on stakeholder perspectives about available interventions. The present study preliminarily characterized caregiver perspectives on intervention for behavior challenges in school-age autistic children. Method 321 caregivers of autistic children completed a survey about interventions used to address behavior challenges. Kruskal-Wallis rank-sum tests and subsequent pairwise comparisons using a Wilcoxon rank-sum test with False-Discovery Rate-adjusted p-values (q<0.05) were conducted for caregiver ratings of interventions. Thematic analysis was conducted for caregivers’ open-ended suggestions for improving interventions. Results Caregivers indicated limited approval of attempted interventions. For children with an IQ ≥ 70, the omnibus test was significant for caregiver ratings of intervention helpfulness (χ2(8) = 38.707, q<0.001, ε2 = 0.017) with medications and Collaborative & Proactive Solutions (CPS; Greene, 2010) therapy rated highest, and was significant for caregiver ratings of amount of improvement maintained over time (χ2(8) = 46.013, q<0.001, ε2 = 0.020) with medications, CPS, applied behavioral analysis (ABA), and “other interventions” rated highest. For children with an IQ < 70, pairwise tests revealed no significant differences. Caregivers suggested improvements at the systems, provider, caregiver/family, and child/intervention levels. Conclusions Caregivers’ limited approval of interventions used to address behavior challenges suggests the need for improved intervention options. While medications and ABA are standard-of-care interventions, CPS may be a caregiver-preferred and efficacious option that is underutilized among autistic children with an IQ ≥ 70. En ligne : https://doi.org/10.1016/j.rasd.2020.101714 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=440 [article] Caregiver perspectives on interventions for behavior challenges in autistic children [texte imprimé] / Jessica E. TSCHIDA, Auteur ; Brenna B. MADDOX, Auteur ; Jennifer R. BERTOLLO, Auteur ; Emily S. KUSCHNER, Auteur ; Judith S. MILLER, Auteur ; Thomas H. OLLENDICK, Auteur ; Ross W. GREENE, Auteur ; Benjamin E. YERYS, Auteur . - 101714. Langues : Anglais (eng) in Research in Autism Spectrum Disorders > 81 (March 2021) . - 101714 Mots-clés : Aggression  Autism  Intervention  Parent  School-age Index. décimale : PER Périodiques Résumé : Background Children with an autism spectrum disorder (ASD) diagnosis have high rates of behaviors such as aggression, oppositional behaviors, and tantrums. Despite effectiveness of interventions for these behavior challenges in a considerable number of autistic children, there is little information on stakeholder perspectives about available interventions. The present study preliminarily characterized caregiver perspectives on intervention for behavior challenges in school-age autistic children. Method 321 caregivers of autistic children completed a survey about interventions used to address behavior challenges. Kruskal-Wallis rank-sum tests and subsequent pairwise comparisons using a Wilcoxon rank-sum test with False-Discovery Rate-adjusted p-values (q<0.05) were conducted for caregiver ratings of interventions. Thematic analysis was conducted for caregivers’ open-ended suggestions for improving interventions. Results Caregivers indicated limited approval of attempted interventions. For children with an IQ ≥ 70, the omnibus test was significant for caregiver ratings of intervention helpfulness (χ2(8) = 38.707, q<0.001, ε2 = 0.017) with medications and Collaborative & Proactive Solutions (CPS; Greene, 2010) therapy rated highest, and was significant for caregiver ratings of amount of improvement maintained over time (χ2(8) = 46.013, q<0.001, ε2 = 0.020) with medications, CPS, applied behavioral analysis (ABA), and “other interventions” rated highest. For children with an IQ < 70, pairwise tests revealed no significant differences. Caregivers suggested improvements at the systems, provider, caregiver/family, and child/intervention levels. Conclusions Caregivers’ limited approval of interventions used to address behavior challenges suggests the need for improved intervention options. While medications and ABA are standard-of-care interventions, CPS may be a caregiver-preferred and efficacious option that is underutilized among autistic children with an IQ ≥ 70. En ligne : https://doi.org/10.1016/j.rasd.2020.101714 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=440

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 Auteurs : Caitlin C. CLEMENTS, Auteur ; Tara L. WENGER, Auteur ; Alisa R. ZOLTOWSKI, Auteur ; Jennifer R. BERTOLLO, Auteur ; Judith S. MILLER, Auteur ; Ashley B. DE MARCHENA, Auteur ; Lauren M. MITTEER, Auteur ; John C. CAREY, Auteur ; Benjamin E. YERYS, Auteur ; Elaine H. ZACKAI, Auteur ; Beverly S. EMANUEL, Auteur ; Donna 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] / Caitlin C. CLEMENTS, Auteur ; Tara L. WENGER, Auteur ; Alisa R. ZOLTOWSKI, Auteur ; Jennifer R. BERTOLLO, Auteur ; Judith S. MILLER, Auteur ; Ashley B. DE MARCHENA, Auteur ; Lauren M. MITTEER, Auteur ; John C. CAREY, Auteur ; Benjamin E. YERYS, Auteur ; Elaine H. ZACKAI, Auteur ; Beverly S. EMANUEL, Auteur ; Donna 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

Development and Preliminary Validation of the Accommodations & Impact Scale for Developmental Disabilities / Manisha D. UDHNANI in Journal of Autism and Developmental Disorders, 54-5 (May 2024)  

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

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Evaluating More Granular Options for Socio-Demographic Questions in Autism Research / Kristn CURRANS ; Kate WALLIS ; Amanda E. BENNETT ; Judith S. MILLER in Autism Research, 18-6 (June 2025)  

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

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Genome-wide linkage analyses of two repetitive behavior phenotypes in Utah pedigrees with autism spectrum disorders / Dale CANNON in Molecular Autism, (February 2010)  

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Genome-wide linkage using the Social Responsiveness Scale in Utah autism pedigrees / Hilary H. COON in Molecular Autism, (April 2010)  

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"I wouldn't know where to start": Perspectives from clinicians, agency leaders, and autistic adults on improving community mental health services for autistic adults / Brenna B. MADDOX in Autism, 24-4 (May 2020)  

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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 / Brenna B. MADDOX in Autism, 22-8 (November 2018)  

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A Lifespan Approach to Patient-Reported Outcomes and Quality of Life for People on the Autism Spectrum / Laura GRAHAM HOLMES in Autism Research, 13-6 (June 2020)  

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