Chromosome 22q11.2 deletion syndrome / Kathleen ANGKUSTSIRI

Public ISBD in Autism and Other Neurodevelopmental Disorders / Robin L. HANSEN Titre : Chromosome 22q11.2 deletion syndrome Type de document : Texte imprimé et/ou numérique Auteurs : Kathleen ANGKUSTSIRI, Auteur ; Tony J. SIMON, Auteur Année de publication : 2013 Importance : p.83-101 Langues : Anglais (eng) Index. décimale : TRO-F TRO-F - Autres Troubles Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=190 in Autism and Other Neurodevelopmental Disorders / Robin L. HANSEN Chromosome 22q11.2 deletion syndrome [Texte imprimé et/ou numérique] / Kathleen ANGKUSTSIRI, Auteur ; Tony J. SIMON, Auteur . - 2013 . - p.83-101. Langues : Anglais (eng) Index. décimale : TRO-F TRO-F - Autres Troubles Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=190

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Developmental-behavioral profiles in children with autism spectrum disorder and co-occurring gastrointestinal symptoms / Bibiana RESTREPO in Autism Research, 13-10 (October 2020)  

Public ISBD [article]  inAutism Research > 13-10 (October 2020) . - p.1778-1789 Titre : Developmental-behavioral profiles in children with autism spectrum disorder and co-occurring gastrointestinal symptoms Type de document : Texte imprimé et/ou numérique Auteurs : Bibiana RESTREPO, Auteur ; Kathleen ANGKUSTSIRI, Auteur ; Sandra L. TAYLOR, Auteur ; Sally J ROGERS, Auteur ; Jacqueline CABRAL, Auteur ; Brianna HEATH, Auteur ; Alexa HECHTMAN, Auteur ; Marjorie SOLOMON, Auteur ; Paul ASHWOOD, Auteur ; David G. AMARAL, Auteur ; Christine W. NORDAHL, Auteur Article en page(s) : p.1778-1789 Langues : Anglais (eng) Mots-clés : GI dysfunction  GI symptoms  autism  autism spectrum disorder  co-occurring  coexisting  comorbidities  gastrointestinal problems  repetitive behavior Index. décimale : PER Périodiques Résumé : Gastrointestinal (GI) symptoms are frequently reported in children with autism spectrum disorder (ASD). We evaluated the frequency and severity of GI symptoms in preschool-aged children with ASD compared to participants with typical development (TD). Our goal was to ascertain whether GI symptoms are associated with differences in sex or developmental and behavioral measures. Participants were between 2 and 3.5?years of age and included 255 children with ASD (184 males/71 females) and 129 age-matched TD controls (75 males/54 females). A parent interview was used to assess GI symptoms (abdominal pain, gaseousness/bloating, diarrhea, constipation, pain on stooling, vomiting, difficulty swallowing, blood in stool or in vomit). Children with GI symptoms in each diagnostic group were compared to children without GI symptoms on measures of developmental, behavioral, and adaptive functioning. GI symptoms were reported more frequently in children with ASD compared to the TD group (47.8% vs. 17.8%, respectively). Children with ASD were also more likely to experience multiple GI symptoms (30.6% vs. 5.4%). GI symptoms were equally common in males and females across both diagnostic groups. There were no statistically significant differences in developmental or adaptive measures based on presence of GI symptoms in either ASD or TD children. Co-occurring GI symptoms were, however, associated with increased self-injurious behaviors, restricted stereotyped behaviors, aggressive behaviors, sleep problems and attention problems in both ASD and TD children. In children with ASD, a higher number of GI symptoms was associated with an increase in self-injurious behaviors, somatic complaints, reduced sleep duration, and increased parasomnias. LAY SUMMARY: ASD is characterized by challenges in social communication and repetitive behaviors. But, people with autism have many other difficulties including gastrointestinal problems. Children with ASD were three times more likely to experience GI symptoms than typically developing peers. Increased GI symptoms are associated with increased problem behaviors such as sleep problems, self-injury, and body aches. Since GI symptoms are often treatable, it is important to recognize them as soon as possible. Both clinicians and parents should become more aware of the high occurrence of GI problems in autistic people. Autism Res 2020, 13: 1778-1789. © 2020 International Society for Autism Research and Wiley Periodicals LLC. En ligne : http://dx.doi.org/10.1002/aur.2354 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=431 [article] Developmental-behavioral profiles in children with autism spectrum disorder and co-occurring gastrointestinal symptoms [Texte imprimé et/ou numérique] / Bibiana RESTREPO, Auteur ; Kathleen ANGKUSTSIRI, Auteur ; Sandra L. TAYLOR, Auteur ; Sally J ROGERS, Auteur ; Jacqueline CABRAL, Auteur ; Brianna HEATH, Auteur ; Alexa HECHTMAN, Auteur ; Marjorie SOLOMON, Auteur ; Paul ASHWOOD, Auteur ; David G. AMARAL, Auteur ; Christine W. NORDAHL, Auteur . - p.1778-1789. Langues : Anglais (eng) in Autism Research > 13-10 (October 2020) . - p.1778-1789 Mots-clés : GI dysfunction  GI symptoms  autism  autism spectrum disorder  co-occurring  coexisting  comorbidities  gastrointestinal problems  repetitive behavior Index. décimale : PER Périodiques Résumé : Gastrointestinal (GI) symptoms are frequently reported in children with autism spectrum disorder (ASD). We evaluated the frequency and severity of GI symptoms in preschool-aged children with ASD compared to participants with typical development (TD). Our goal was to ascertain whether GI symptoms are associated with differences in sex or developmental and behavioral measures. Participants were between 2 and 3.5?years of age and included 255 children with ASD (184 males/71 females) and 129 age-matched TD controls (75 males/54 females). A parent interview was used to assess GI symptoms (abdominal pain, gaseousness/bloating, diarrhea, constipation, pain on stooling, vomiting, difficulty swallowing, blood in stool or in vomit). Children with GI symptoms in each diagnostic group were compared to children without GI symptoms on measures of developmental, behavioral, and adaptive functioning. GI symptoms were reported more frequently in children with ASD compared to the TD group (47.8% vs. 17.8%, respectively). Children with ASD were also more likely to experience multiple GI symptoms (30.6% vs. 5.4%). GI symptoms were equally common in males and females across both diagnostic groups. There were no statistically significant differences in developmental or adaptive measures based on presence of GI symptoms in either ASD or TD children. Co-occurring GI symptoms were, however, associated with increased self-injurious behaviors, restricted stereotyped behaviors, aggressive behaviors, sleep problems and attention problems in both ASD and TD children. In children with ASD, a higher number of GI symptoms was associated with an increase in self-injurious behaviors, somatic complaints, reduced sleep duration, and increased parasomnias. LAY SUMMARY: ASD is characterized by challenges in social communication and repetitive behaviors. But, people with autism have many other difficulties including gastrointestinal problems. Children with ASD were three times more likely to experience GI symptoms than typically developing peers. Increased GI symptoms are associated with increased problem behaviors such as sleep problems, self-injury, and body aches. Since GI symptoms are often treatable, it is important to recognize them as soon as possible. Both clinicians and parents should become more aware of the high occurrence of GI problems in autistic people. Autism Res 2020, 13: 1778-1789. © 2020 International Society for Autism Research and Wiley Periodicals LLC. En ligne : http://dx.doi.org/10.1002/aur.2354 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=431

Interrelationship Between Cognitive Control, Anxiety, and Restricted and Repetitive Behaviors in Children with 22q11.2 Deletion Syndrome / M. ULJAREVIC in Autism Research, 12-12 (December)  

Public ISBD [article]  inAutism Research > 12-12 (December) . - p.1737-1744 Titre : Interrelationship Between Cognitive Control, Anxiety, and Restricted and Repetitive Behaviors in Children with 22q11.2 Deletion Syndrome Type de document : Texte imprimé et/ou numérique Auteurs : M. ULJAREVIC, Auteur ; K. L. MCCABE, Auteur ; Kathleen ANGKUSTSIRI, Auteur ; T. J. SIMON, Auteur ; A. Y. HARDAN, Auteur Année de publication : 2019 Article en page(s) : p.1737-1744 Langues : Anglais (eng) Mots-clés : 22q11.2DS  anxiety  cognitive control  repetitive behaviors Index. décimale : PER Périodiques Résumé : Restricted and repetitive behaviors (RRB) are common in individuals with 22q11.2 microdeletion syndrome (22q11.2DS), yet the underlying mechanisms of these behaviors remain poorly characterized. In the present pilot investigation, we aimed to further our understanding of RRB in 22q11.2DS by exploring their relationship with cognitive control and anxiety as well as with sex, chronological age, and full-scale IQ. Parents of 38 children with 22q11.2DS (17 females; Mage = 11.15 years, SD = 2.46) completed the Social Communication Questionnaire as a measure of RRB and social and communication (SC) problems and the Behavioral Assessment System for Children-2 as a measure of anxiety and cognitive control. Higher RRB scores were significantly associated with higher anxiety levels (r = 0.44, P = 0.006), more impairments in cognitive control (r = 0.56, P < 0.001), and higher SC scores (r = 0.43, P = 0.011). In the first step of the hierarchical regression model, anxiety accounted for 24.5% of variance (F = 10.05, P = 0.003); cognitive control accounted for an additional 18.1% of variance (Fchange = 11.15, P < 0.001) in the second step; SC score accounted for only 0.8% of additional variance in the third step (Fchange = 0.40, P = 0.53). The final model explained 43.4% of variance (F = 7.42, P = 0.001), with cognitive control as a unique independent predictor of RRB score (t = 2.52, P = 0.01). The current study provides the first exploration of the cognitive control-anxiety-RRB link in individuals with 22q11.2DS and points to cognitive control as a potentially viable target for treatments aimed at reducing RRB. Autism Res 2019, 12: 1737-1744. (c) 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: People with 22q11.2 deletion syndrome show high levels of repetitive behaviors, however, the previous research has not explored why people with this syndrome exhibit high rates of repetitive behaviors. Understanding the reasons for the high levels of repetitive behaviors is important given that these behaviors can be highly impairing. Our study found that repetitive behaviors were associated with impaired ability to self-regulate and high levels of anxiety. These findings need to be further replicated; however, they are important as they suggest potentially promising ways of reducing these behaviors. En ligne : http://dx.doi.org/10.1002/aur.2194 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=413 [article] Interrelationship Between Cognitive Control, Anxiety, and Restricted and Repetitive Behaviors in Children with 22q11.2 Deletion Syndrome [Texte imprimé et/ou numérique] / M. ULJAREVIC, Auteur ; K. L. MCCABE, Auteur ; Kathleen ANGKUSTSIRI, Auteur ; T. J. SIMON, Auteur ; A. Y. HARDAN, Auteur . - 2019 . - p.1737-1744. Langues : Anglais (eng) in Autism Research > 12-12 (December) . - p.1737-1744 Mots-clés : 22q11.2DS  anxiety  cognitive control  repetitive behaviors Index. décimale : PER Périodiques Résumé : Restricted and repetitive behaviors (RRB) are common in individuals with 22q11.2 microdeletion syndrome (22q11.2DS), yet the underlying mechanisms of these behaviors remain poorly characterized. In the present pilot investigation, we aimed to further our understanding of RRB in 22q11.2DS by exploring their relationship with cognitive control and anxiety as well as with sex, chronological age, and full-scale IQ. Parents of 38 children with 22q11.2DS (17 females; Mage = 11.15 years, SD = 2.46) completed the Social Communication Questionnaire as a measure of RRB and social and communication (SC) problems and the Behavioral Assessment System for Children-2 as a measure of anxiety and cognitive control. Higher RRB scores were significantly associated with higher anxiety levels (r = 0.44, P = 0.006), more impairments in cognitive control (r = 0.56, P < 0.001), and higher SC scores (r = 0.43, P = 0.011). In the first step of the hierarchical regression model, anxiety accounted for 24.5% of variance (F = 10.05, P = 0.003); cognitive control accounted for an additional 18.1% of variance (Fchange = 11.15, P < 0.001) in the second step; SC score accounted for only 0.8% of additional variance in the third step (Fchange = 0.40, P = 0.53). The final model explained 43.4% of variance (F = 7.42, P = 0.001), with cognitive control as a unique independent predictor of RRB score (t = 2.52, P = 0.01). The current study provides the first exploration of the cognitive control-anxiety-RRB link in individuals with 22q11.2DS and points to cognitive control as a potentially viable target for treatments aimed at reducing RRB. Autism Res 2019, 12: 1737-1744. (c) 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: People with 22q11.2 deletion syndrome show high levels of repetitive behaviors, however, the previous research has not explored why people with this syndrome exhibit high rates of repetitive behaviors. Understanding the reasons for the high levels of repetitive behaviors is important given that these behaviors can be highly impairing. Our study found that repetitive behaviors were associated with impaired ability to self-regulate and high levels of anxiety. These findings need to be further replicated; however, they are important as they suggest potentially promising ways of reducing these behaviors. En ligne : http://dx.doi.org/10.1002/aur.2194 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=413

Minor physical anomalies in children with autism spectrum disorders / Kathleen ANGKUSTSIRI in Autism, 15-6 (November 2011)  

Public ISBD [article]  inAutism > 15-6 (November 2011) . - p.746-760 Titre : Minor physical anomalies in children with autism spectrum disorders Type de document : Texte imprimé et/ou numérique Auteurs : Kathleen ANGKUSTSIRI, Auteur ; Paula KRAKOWIAK, Auteur ; Billur MOGHADDAM, Auteur ; Terrance WARDINSKY, Auteur ; Jerald GARDNER, Auteur ; Nareg KALAMKARIAN, Auteur ; Irva HERTZ-PICCIOTTO, Auteur ; David J. HANSEN, Auteur Année de publication : 2011 Article en page(s) : p.746-760 Langues : Anglais (eng) Mots-clés : autism  dysmorphology  minor physical anomalies Index. décimale : PER Périodiques Résumé : Objective: There is clinical heterogeneity among the autism spectrum disorders (ASD). The presence of dysmorphology (minor physical anomalies; MPAs) is one possible tool for defining a clinically relevant subset in ASD. This study employs an adaptation of Miles and Hillman’s (2000) classifications by using photographs to identify a subgroup with significant dysmorphology among children with ASD, typical development (TYP), and developmental delay (DD). Method: Children with ASD, DD, and TYP between 2 and 5 years old were part of the CHARGE Study. Pediatric specialists blinded to diagnostic group classified photographs based on the number of MPAs present: ‘dysmorphic’ if >3 and ‘nondysmorphic’ if <3 MPAs. Results: Photographs for 324 children were included. Significantly more children with ASD were classified as dysmorphic compared to TYP children (p = .007). In children with ASD, seizures were more prevalent in those rated dysmorphic (p = .005). Frequencies were similar between ASD versus DD (p = .19) after removing those with known syndromes. Conclusion: Photographic assessment can be used to detect generalized dysmorphology in children who are often difficult to examine. This has clinical relevance, as children with multiple MPAs can be identified through the use of photographs and prioritized for investigation of brain abnormalities and underlying genetic disorders. En ligne : http://dx.doi.org/10.1177/1362361310397620 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=149 [article] Minor physical anomalies in children with autism spectrum disorders [Texte imprimé et/ou numérique] / Kathleen ANGKUSTSIRI, Auteur ; Paula KRAKOWIAK, Auteur ; Billur MOGHADDAM, Auteur ; Terrance WARDINSKY, Auteur ; Jerald GARDNER, Auteur ; Nareg KALAMKARIAN, Auteur ; Irva HERTZ-PICCIOTTO, Auteur ; David J. HANSEN, Auteur . - 2011 . - p.746-760. Langues : Anglais (eng) in Autism > 15-6 (November 2011) . - p.746-760 Mots-clés : autism  dysmorphology  minor physical anomalies Index. décimale : PER Périodiques Résumé : Objective: There is clinical heterogeneity among the autism spectrum disorders (ASD). The presence of dysmorphology (minor physical anomalies; MPAs) is one possible tool for defining a clinically relevant subset in ASD. This study employs an adaptation of Miles and Hillman’s (2000) classifications by using photographs to identify a subgroup with significant dysmorphology among children with ASD, typical development (TYP), and developmental delay (DD). Method: Children with ASD, DD, and TYP between 2 and 5 years old were part of the CHARGE Study. Pediatric specialists blinded to diagnostic group classified photographs based on the number of MPAs present: ‘dysmorphic’ if >3 and ‘nondysmorphic’ if <3 MPAs. Results: Photographs for 324 children were included. Significantly more children with ASD were classified as dysmorphic compared to TYP children (p = .007). In children with ASD, seizures were more prevalent in those rated dysmorphic (p = .005). Frequencies were similar between ASD versus DD (p = .19) after removing those with known syndromes. Conclusion: Photographic assessment can be used to detect generalized dysmorphology in children who are often difficult to examine. This has clinical relevance, as children with multiple MPAs can be identified through the use of photographs and prioritized for investigation of brain abnormalities and underlying genetic disorders. En ligne : http://dx.doi.org/10.1177/1362361310397620 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=149

A randomized double-blind, placebo-controlled trial of ganaxolone in children and adolescents with fragile X syndrome / A. LIGSAY in Journal of Neurodevelopmental Disorders, 9-1 (December 2017)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 9-1 (December 2017) . - p.26 Titre : A randomized double-blind, placebo-controlled trial of ganaxolone in children and adolescents with fragile X syndrome Type de document : Texte imprimé et/ou numérique Auteurs : A. LIGSAY, Auteur ; A. VAN DIJCK, Auteur ; D. V. NGUYEN, Auteur ; R. LOZANO, Auteur ; Y. CHEN, Auteur ; E. S. BICKEL, Auteur ; D. HESSL, Auteur ; A. SCHNEIDER, Auteur ; Kathleen ANGKUSTSIRI, Auteur ; F. TASSONE, Auteur ; B. CEULEMANS, Auteur ; R. F. KOOY, Auteur ; Randi J. HAGERMAN, Auteur Article en page(s) : p.26 Langues : Anglais (eng) Mots-clés : Adolescents  Children  Clinical trial  Fragile X syndrome  Ganaxolone Index. décimale : PER Périodiques Résumé : BACKGROUND: Gamma-aminobutyric acid (GABA) system deficits are integral to the pathophysiologic development of fragile X syndrome (FXS). Ganaxolone, a GABAA receptor positive allosteric modulator, is hypothesized to improve symptoms such as anxiety, hyperactivity, and attention deficits in children with FXS. METHODS: This study was a randomized, double-blind, placebo-controlled, crossover trial of ganaxolone in children with FXS, aged 6-17 years. RESULTS: Sixty-one participants were assessed for eligibility, and 59 were randomized to the study. Fifty-five participants completed at least the first arm and were included in the intention-to-treat analysis; 51 participants completed both treatment arms. There were no statistically significant improvements observed on the primary outcome measure (Clinical Global Impression-Improvement), the key secondary outcome measure (Pediatric Anxiety Rating Scale-R), or any other secondary outcome measures in the overall study population. However, post-hoc analyses revealed positive trends in areas of anxiety, attention, and hyperactivity in participants with higher baseline anxiety and low full-scale IQ scores. No serious adverse events (AEs) occurred, although there was a significant increase in the frequency and severity of AEs related to ganaxolone compared to placebo. CONCLUSIONS: While ganaxolone was found to be safe, there were no significant improvements in the outcome measures in the overall study population. However, ganaxolone in subgroups of children with FXS, including those with higher anxiety or lower cognitive abilities, might have beneficial effects. TRIAL REGISTRATION: ClinicalTrials.gov, NCT01725152. En ligne : http://dx.doi.org/10.1186/s11689-017-9207-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=350 [article] A randomized double-blind, placebo-controlled trial of ganaxolone in children and adolescents with fragile X syndrome [Texte imprimé et/ou numérique] / A. LIGSAY, Auteur ; A. VAN DIJCK, Auteur ; D. V. NGUYEN, Auteur ; R. LOZANO, Auteur ; Y. CHEN, Auteur ; E. S. BICKEL, Auteur ; D. HESSL, Auteur ; A. SCHNEIDER, Auteur ; Kathleen ANGKUSTSIRI, Auteur ; F. TASSONE, Auteur ; B. CEULEMANS, Auteur ; R. F. KOOY, Auteur ; Randi J. HAGERMAN, Auteur . - p.26. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 9-1 (December 2017) . - p.26 Mots-clés : Adolescents  Children  Clinical trial  Fragile X syndrome  Ganaxolone Index. décimale : PER Périodiques Résumé : BACKGROUND: Gamma-aminobutyric acid (GABA) system deficits are integral to the pathophysiologic development of fragile X syndrome (FXS). Ganaxolone, a GABAA receptor positive allosteric modulator, is hypothesized to improve symptoms such as anxiety, hyperactivity, and attention deficits in children with FXS. METHODS: This study was a randomized, double-blind, placebo-controlled, crossover trial of ganaxolone in children with FXS, aged 6-17 years. RESULTS: Sixty-one participants were assessed for eligibility, and 59 were randomized to the study. Fifty-five participants completed at least the first arm and were included in the intention-to-treat analysis; 51 participants completed both treatment arms. There were no statistically significant improvements observed on the primary outcome measure (Clinical Global Impression-Improvement), the key secondary outcome measure (Pediatric Anxiety Rating Scale-R), or any other secondary outcome measures in the overall study population. However, post-hoc analyses revealed positive trends in areas of anxiety, attention, and hyperactivity in participants with higher baseline anxiety and low full-scale IQ scores. No serious adverse events (AEs) occurred, although there was a significant increase in the frequency and severity of AEs related to ganaxolone compared to placebo. CONCLUSIONS: While ganaxolone was found to be safe, there were no significant improvements in the outcome measures in the overall study population. However, ganaxolone in subgroups of children with FXS, including those with higher anxiety or lower cognitive abilities, might have beneficial effects. TRIAL REGISTRATION: ClinicalTrials.gov, NCT01725152. En ligne : http://dx.doi.org/10.1186/s11689-017-9207-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=350

Social Impairments in Chromosome 22q11.2 Deletion Syndrome (22q11.2DS): Autism Spectrum Disorder or a Different Endophenotype? / Kathleen ANGKUSTSIRI in Journal of Autism and Developmental Disorders, 44-4 (April 2014)  

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Sociodemographic Disparities in Intervention Service Utilization in Families of Children with Autism Spectrum Disorder / Cathina T. NGUYEN in Journal of Autism and Developmental Disorders, 46-12 (December 2016)  

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