Exploring autism symptoms in an Australian cohort of patients with Prader-Willi and Angelman syndromes / E. K. BAKER in Journal of Neurodevelopmental Disorders, 10-1 (December 2018)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 10-1 (December 2018) . - 24 p. Titre : Exploring autism symptoms in an Australian cohort of patients with Prader-Willi and Angelman syndromes Type de document : Texte imprimé et/ou numérique Auteurs : E. K. BAKER, Auteur ; D. E. GODLER, Auteur ; M. BUI, Auteur ; C. HICKERTON, Auteur ; C. ROGERS, Auteur ; M. FIELD, Auteur ; D. J. AMOR, Auteur ; L. BRETHERTON, Auteur Année de publication : 2018 Article en page(s) : 24 p. Langues : Anglais (eng) Mots-clés : Ados  Angelman syndrome  Autism  Iq  Prader-Willi syndrome Index. décimale : PER Périodiques Résumé : BACKGROUND: Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are neurodevelopmental disorders that are caused by abnormal expression of imprinted genes in the 15q11-13 region. Dysregulation of genes located in this region has been proposed as a susceptibility factor for autism spectrum disorder (ASD) in both disorders. METHODS: This study aimed to explore symptoms of ASD in 25 PWS and 19 AS individuals aged between 1 and 39 years via objective assessment. Participants completed the Autism Diagnostic Observation Schedule-2nd Edition (ADOS-2) and a developmentally or age-appropriate intellectual functioning assessment. All participants had their genetic diagnosis confirmed using DNA methylation analysis and microarray testing of copy number changes within the 15q11-13 region. RESULTS: Participants with PWS had significantly higher overall and social affect calibrated severity scores (CSS) on the ADOS-2 compared to AS participants (p = .0055 and .0015, respectively), but the two groups did not differ significantly on CSS for the repetitive and restricted behaviour domain. CONCLUSIONS: PWS cases presented with greater symptoms associated with ASD compared to individuals with AS. Mental health issues associated with PWS may contribute to elevated symptoms of ASD, particularly in adolescents and adults with PWS. En ligne : http://dx.doi.org/10.1186/s11689-018-9242-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=386 [article] Exploring autism symptoms in an Australian cohort of patients with Prader-Willi and Angelman syndromes [Texte imprimé et/ou numérique] / E. K. BAKER, Auteur ; D. E. GODLER, Auteur ; M. BUI, Auteur ; C. HICKERTON, Auteur ; C. ROGERS, Auteur ; M. FIELD, Auteur ; D. J. AMOR, Auteur ; L. BRETHERTON, Auteur . - 2018 . - 24 p. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 10-1 (December 2018) . - 24 p. Mots-clés : Ados  Angelman syndrome  Autism  Iq  Prader-Willi syndrome Index. décimale : PER Périodiques Résumé : BACKGROUND: Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are neurodevelopmental disorders that are caused by abnormal expression of imprinted genes in the 15q11-13 region. Dysregulation of genes located in this region has been proposed as a susceptibility factor for autism spectrum disorder (ASD) in both disorders. METHODS: This study aimed to explore symptoms of ASD in 25 PWS and 19 AS individuals aged between 1 and 39 years via objective assessment. Participants completed the Autism Diagnostic Observation Schedule-2nd Edition (ADOS-2) and a developmentally or age-appropriate intellectual functioning assessment. All participants had their genetic diagnosis confirmed using DNA methylation analysis and microarray testing of copy number changes within the 15q11-13 region. RESULTS: Participants with PWS had significantly higher overall and social affect calibrated severity scores (CSS) on the ADOS-2 compared to AS participants (p = .0055 and .0015, respectively), but the two groups did not differ significantly on CSS for the repetitive and restricted behaviour domain. CONCLUSIONS: PWS cases presented with greater symptoms associated with ASD compared to individuals with AS. Mental health issues associated with PWS may contribute to elevated symptoms of ASD, particularly in adolescents and adults with PWS. En ligne : http://dx.doi.org/10.1186/s11689-018-9242-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=386

Follow-up of the Cool Little Kids translational trial into middle childhood / Jordana K. BAYER in Journal of Child Psychology and Psychiatry, 63-1 (January 2022)  

Public ISBD [article]  inJournal of Child Psychology and Psychiatry > 63-1 (January 2022) . - p.88-98 Titre : Follow-up of the Cool Little Kids translational trial into middle childhood Type de document : Texte imprimé et/ou numérique Auteurs : Jordana K. BAYER, Auteur ; A. BROWN, Auteur ; Luke A. PRENDERGAST, Auteur ; L. BRETHERTON, Auteur ; H. HISCOCK, Auteur ; C. MIHALOPOULOS, Auteur ; M. NELSON-LOWE, Auteur ; T. GILBERTSON, Auteur ; K. NOONE, Auteur ; N. BISCHOF, Auteur ; C. BEECHEY, Auteur ; F. MULIADI, Auteur ; R. M. RAPEE, Auteur Article en page(s) : p.88-98 Langues : Anglais (eng) Mots-clés : Anxiety  Anxiety Disorders/diagnosis  Child  Child Behavior  Child, Preschool  Follow-Up Studies  Humans  Parenting  Internalising problems  anxiety disorders  prevention  randomised controlled trial  translation Index. décimale : PER Périodiques Résumé : BACKGROUND: Public health advocates have highlighted internalising problems as a leading cause of global burden of disease. Internalising problems (anxiety/depression) affect up to 20% of school-age children and can impact peer relations, school engagement and later employment and mortality. This translational trial aimed to determine whether a selective/indicated parenting group programme to prevent internalising distress in shy/inhibited preschool children had sustained effects in middle childhood. Translational design aspects were a brief parent-report screening tool for child inhibition offered universally across the population via preschools in the year before school, followed by an invitation to parents of all inhibited children to attend the parenting programme at venues in their local community. METHODS: Design of the study was a randomised controlled trial. The setting was 307 preschool services across eight socioeconomically diverse government areas in Melbourne, Australia. Participants were 545 parents of inhibited four-year-old children of which 456 (84%) were retained during middle childhood (age of seven to 10?years). Early intervention was the Cool Little Kids parenting group programme, and control was 'usual care' access to available support services in the community. Primary outcomes were child anxiety and depression symptoms (parent and child report) and DSM-IV anxiety disorders (assessor masked). Secondary outcomes were parenting practices and parent mental health. RESULTS: There was no significant difference in anxiety disorders between the intervention and control group during the three annual follow-ups of the cohort in middle childhood (2015 43% vs. 41%, 2016 40% vs. 36%, 2017 27% vs. 30%, respectively; p's?>?.05). There were also no significant differences in child anxiety or depression symptoms (by child or parent report), parenting practices or parent mental health, between the intervention and control group during middle childhood. However, a priori interaction tests suggested that for children with anxious parents, early intervention attenuated risk for middle childhood internalising problems. CONCLUSIONS: An issue for population translation is low levels of parent engagement in preventive interventions. Initial effects of the Cool Little Kids parenting group programme in reducing shy/inhibited preschool children's internalising distress at school entry dissipated over time, perhaps due to low engagement. Future translational research on early prevention of internalising problems could benefit from screening preschool children in the population at higher risk (combining temperamental inhibition and parent distress) and incorporating motivational techniques to facilitate family engagement. Trial registration ISRCTN30996662 http://www.isrctn.com/ISRCTN30996662. En ligne : http://dx.doi.org/10.1111/jcpp.13464 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=456 [article] Follow-up of the Cool Little Kids translational trial into middle childhood [Texte imprimé et/ou numérique] / Jordana K. BAYER, Auteur ; A. BROWN, Auteur ; Luke A. PRENDERGAST, Auteur ; L. BRETHERTON, Auteur ; H. HISCOCK, Auteur ; C. MIHALOPOULOS, Auteur ; M. NELSON-LOWE, Auteur ; T. GILBERTSON, Auteur ; K. NOONE, Auteur ; N. BISCHOF, Auteur ; C. BEECHEY, Auteur ; F. MULIADI, Auteur ; R. M. RAPEE, Auteur . - p.88-98. Langues : Anglais (eng) in Journal of Child Psychology and Psychiatry > 63-1 (January 2022) . - p.88-98 Mots-clés : Anxiety  Anxiety Disorders/diagnosis  Child  Child Behavior  Child, Preschool  Follow-Up Studies  Humans  Parenting  Internalising problems  anxiety disorders  prevention  randomised controlled trial  translation Index. décimale : PER Périodiques Résumé : BACKGROUND: Public health advocates have highlighted internalising problems as a leading cause of global burden of disease. Internalising problems (anxiety/depression) affect up to 20% of school-age children and can impact peer relations, school engagement and later employment and mortality. This translational trial aimed to determine whether a selective/indicated parenting group programme to prevent internalising distress in shy/inhibited preschool children had sustained effects in middle childhood. Translational design aspects were a brief parent-report screening tool for child inhibition offered universally across the population via preschools in the year before school, followed by an invitation to parents of all inhibited children to attend the parenting programme at venues in their local community. METHODS: Design of the study was a randomised controlled trial. The setting was 307 preschool services across eight socioeconomically diverse government areas in Melbourne, Australia. Participants were 545 parents of inhibited four-year-old children of which 456 (84%) were retained during middle childhood (age of seven to 10?years). Early intervention was the Cool Little Kids parenting group programme, and control was 'usual care' access to available support services in the community. Primary outcomes were child anxiety and depression symptoms (parent and child report) and DSM-IV anxiety disorders (assessor masked). Secondary outcomes were parenting practices and parent mental health. RESULTS: There was no significant difference in anxiety disorders between the intervention and control group during the three annual follow-ups of the cohort in middle childhood (2015 43% vs. 41%, 2016 40% vs. 36%, 2017 27% vs. 30%, respectively; p's?>?.05). There were also no significant differences in child anxiety or depression symptoms (by child or parent report), parenting practices or parent mental health, between the intervention and control group during middle childhood. However, a priori interaction tests suggested that for children with anxious parents, early intervention attenuated risk for middle childhood internalising problems. CONCLUSIONS: An issue for population translation is low levels of parent engagement in preventive interventions. Initial effects of the Cool Little Kids parenting group programme in reducing shy/inhibited preschool children's internalising distress at school entry dissipated over time, perhaps due to low engagement. Future translational research on early prevention of internalising problems could benefit from screening preschool children in the population at higher risk (combining temperamental inhibition and parent distress) and incorporating motivational techniques to facilitate family engagement. Trial registration ISRCTN30996662 http://www.isrctn.com/ISRCTN30996662. En ligne : http://dx.doi.org/10.1111/jcpp.13464 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=456

Incomplete silencing of full mutation alleles in males with fragile X syndrome is associated with autistic features / E. K. BAKER in Molecular Autism, 10 (2019)  

Public ISBD [article]  inMolecular Autism > 10 (2019) . - 21 p. Titre : Incomplete silencing of full mutation alleles in males with fragile X syndrome is associated with autistic features Type de document : Texte imprimé et/ou numérique Auteurs : E. K. BAKER, Auteur ; M. ARPONE, Auteur ; S. M. ALIAGA, Auteur ; L. BRETHERTON, Auteur ; C. M. KRAAN, Auteur ; M. BUI, Auteur ; H. R. SLATER, Auteur ; L. LING, Auteur ; D. FRANCIS, Auteur ; M. F. HUNTER, Auteur ; J. ELLIOTT, Auteur ; C. ROGERS, Auteur ; M. FIELD, Auteur ; J. COHEN, Auteur ; Kim CORNISH, Auteur ; L. SANTA MARIA, Auteur ; V. FAUNDES, Auteur ; B. CUROTTO, Auteur ; P. MORALES, Auteur ; C. TRIGO, Auteur ; I. SALAS, Auteur ; A. M. ALLIENDE, Auteur ; D. J. AMOR, Auteur ; D. E. GODLER, Auteur Article en page(s) : 21 p. Langues : Anglais (eng) Mots-clés : Autism  FMR1 mRNA  Fragile X syndrome  Intellectual disability  Mosaicism Index. décimale : PER Périodiques Résumé : Background: Fragile X syndrome (FXS) is a common monogenic cause of intellectual disability with autism features. While it is caused by loss of the FMR1 product (FMRP), mosaicism for active and inactive FMR1 alleles, including alleles termed premutation (PM: 55-199 CGGs), is not uncommon. Importantly, both PM and active full mutation (FM: >/= 200 CGGs) alleles often express elevated levels of mRNA that are thought to be toxic. This study determined if complete FMR1 mRNA silencing from FM alleles and/or levels of FMR1 mRNA (if present) in blood are associated with intellectual functioning and autism features in FXS. Methods: The study cohort included 98 participants (70.4% male) with FXS (FM-only and PM/FM mosaic) aged 1-43 years. A control group of 14 females were used to establish control FMR1 mRNA reference range. Intellectual functioning and autism features were assessed using the Mullen Scales of Early Learning or an age-appropriate Wechsler Scale and the Autism Diagnostic Observation Schedule-2nd Edition (ADOS-2), respectively. FMR1 mRNA was analysed in venous blood collected at the time of assessments, using the real-time PCR relative standard curve method. Results: Females with FXS had significantly higher levels of FMR1 mRNA (p < 0.001) than males. FMR1 mRNA levels were positively associated with age (p < 0.001), but not with intellectual functioning and autistic features in females. FM-only males (aged < 19 years) expressing FM FMR1 mRNA had significantly higher ADOS calibrated severity scores compared to FM-only males with completely silenced FMR1 (p = 0.011). However, there were no significant differences between these subgroups on intellectual functioning. In contrast, decreased levels of FMR1 mRNA were associated with decreased intellectual functioning in FXS males (p = 0.029), but not autism features, when combined with the PM/FM mosaic group. Conclusion: Incomplete silencing of toxic FM RNA may be associated with autistic features, but not intellectual functioning in FXS males. While decreased levels of mRNA may be more predictive of intellectual functioning than autism features. If confirmed in future studies, these findings may have implications for patient stratification, outcome measure development, and design of clinical and pre-clinical trials in FXS. En ligne : http://dx.doi.org/10.1186/s13229-019-0271-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=398 [article] Incomplete silencing of full mutation alleles in males with fragile X syndrome is associated with autistic features [Texte imprimé et/ou numérique] / E. K. BAKER, Auteur ; M. ARPONE, Auteur ; S. M. ALIAGA, Auteur ; L. BRETHERTON, Auteur ; C. M. KRAAN, Auteur ; M. BUI, Auteur ; H. R. SLATER, Auteur ; L. LING, Auteur ; D. FRANCIS, Auteur ; M. F. HUNTER, Auteur ; J. ELLIOTT, Auteur ; C. ROGERS, Auteur ; M. FIELD, Auteur ; J. COHEN, Auteur ; Kim CORNISH, Auteur ; L. SANTA MARIA, Auteur ; V. FAUNDES, Auteur ; B. CUROTTO, Auteur ; P. MORALES, Auteur ; C. TRIGO, Auteur ; I. SALAS, Auteur ; A. M. ALLIENDE, Auteur ; D. J. AMOR, Auteur ; D. E. GODLER, Auteur . - 21 p. Langues : Anglais (eng) in Molecular Autism > 10 (2019) . - 21 p. Mots-clés : Autism  FMR1 mRNA  Fragile X syndrome  Intellectual disability  Mosaicism Index. décimale : PER Périodiques Résumé : Background: Fragile X syndrome (FXS) is a common monogenic cause of intellectual disability with autism features. While it is caused by loss of the FMR1 product (FMRP), mosaicism for active and inactive FMR1 alleles, including alleles termed premutation (PM: 55-199 CGGs), is not uncommon. Importantly, both PM and active full mutation (FM: >/= 200 CGGs) alleles often express elevated levels of mRNA that are thought to be toxic. This study determined if complete FMR1 mRNA silencing from FM alleles and/or levels of FMR1 mRNA (if present) in blood are associated with intellectual functioning and autism features in FXS. Methods: The study cohort included 98 participants (70.4% male) with FXS (FM-only and PM/FM mosaic) aged 1-43 years. A control group of 14 females were used to establish control FMR1 mRNA reference range. Intellectual functioning and autism features were assessed using the Mullen Scales of Early Learning or an age-appropriate Wechsler Scale and the Autism Diagnostic Observation Schedule-2nd Edition (ADOS-2), respectively. FMR1 mRNA was analysed in venous blood collected at the time of assessments, using the real-time PCR relative standard curve method. Results: Females with FXS had significantly higher levels of FMR1 mRNA (p < 0.001) than males. FMR1 mRNA levels were positively associated with age (p < 0.001), but not with intellectual functioning and autistic features in females. FM-only males (aged < 19 years) expressing FM FMR1 mRNA had significantly higher ADOS calibrated severity scores compared to FM-only males with completely silenced FMR1 (p = 0.011). However, there were no significant differences between these subgroups on intellectual functioning. In contrast, decreased levels of FMR1 mRNA were associated with decreased intellectual functioning in FXS males (p = 0.029), but not autism features, when combined with the PM/FM mosaic group. Conclusion: Incomplete silencing of toxic FM RNA may be associated with autistic features, but not intellectual functioning in FXS males. While decreased levels of mRNA may be more predictive of intellectual functioning than autism features. If confirmed in future studies, these findings may have implications for patient stratification, outcome measure development, and design of clinical and pre-clinical trials in FXS. En ligne : http://dx.doi.org/10.1186/s13229-019-0271-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=398

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