Exploring autism symptoms in an Australian cohort of patients with Prader-Willi and Angelman syndromes / Emma 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 Auteurs : Emma K. BAKER, Auteur ; David E. GODLER, Auteur ; Minh BUI, Auteur ; Chriselle HICKERTON, Auteur ; Carolyn ROGERS, Auteur ; Michael FIELD, Auteur ; David J. AMOR, Auteur ; Lesley 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] / Emma K. BAKER, Auteur ; David E. GODLER, Auteur ; Minh BUI, Auteur ; Chriselle HICKERTON, Auteur ; Carolyn ROGERS, Auteur ; Michael FIELD, Auteur ; David J. AMOR, Auteur ; Lesley 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

Incomplete silencing of full mutation alleles in males with fragile X syndrome is associated with autistic features / Emma 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 Auteurs : Emma K. BAKER, Auteur ; Marta ARPONE, Auteur ; Solange M. ALIAGA, Auteur ; Lesley BRETHERTON, Auteur ; Claudine KRAAN, Auteur ; Minh BUI, Auteur ; Howard R. SLATER, Auteur ; Ling LING, Auteur ; David FRANCIS, Auteur ; Matthew F. HUNTER, Auteur ; Justine ELLIOTT, Auteur ; Carolyn ROGERS, Auteur ; Michael FIELD, Auteur ; Jonathan COHEN, Auteur ; Kim CORNISH, Auteur ; Lorena SANTA MARIA, Auteur ; Victor FAUNDES, Auteur ; Bianca CUROTTO, Auteur ; Paulina MORALES, Auteur ; Cesar TRIGO, Auteur ; Isabel SALAS, Auteur ; Angelica M. ALLIENDE, Auteur ; David J. AMOR, Auteur ; David 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] / Emma K. BAKER, Auteur ; Marta ARPONE, Auteur ; Solange M. ALIAGA, Auteur ; Lesley BRETHERTON, Auteur ; Claudine KRAAN, Auteur ; Minh BUI, Auteur ; Howard R. SLATER, Auteur ; Ling LING, Auteur ; David FRANCIS, Auteur ; Matthew F. HUNTER, Auteur ; Justine ELLIOTT, Auteur ; Carolyn ROGERS, Auteur ; Michael FIELD, Auteur ; Jonathan COHEN, Auteur ; Kim CORNISH, Auteur ; Lorena SANTA MARIA, Auteur ; Victor FAUNDES, Auteur ; Bianca CUROTTO, Auteur ; Paulina MORALES, Auteur ; Cesar TRIGO, Auteur ; Isabel SALAS, Auteur ; Angelica M. ALLIENDE, Auteur ; David J. AMOR, Auteur ; David 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

Intellectual functioning and behavioural features associated with mosaicism in fragile X syndrome / Emma K. BAKER in Journal of Neurodevelopmental Disorders, 11-1 (December 2019)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 11-1 (December 2019) . - 41 Titre : Intellectual functioning and behavioural features associated with mosaicism in fragile X syndrome Type de document : texte imprimé Auteurs : Emma K. BAKER, Auteur ; Marta ARPONE, Auteur ; Solange Aliaga VERA, Auteur ; Lesley BRETHERTON, Auteur ; Alexandra URE, Auteur ; Claudine M. KRAAN, Auteur ; Minh BUI, Auteur ; Ling LING, Auteur ; David FRANCIS, Auteur ; Matthew F. HUNTER, Auteur ; Justine ELLIOTT, Auteur ; Carolyn ROGERS, Auteur ; Michael J. FIELD, Auteur ; Jonathan COHEN, Auteur ; Lorena Santa MARIA, Auteur ; Victor FAUNDES, Auteur ; Bianca CUROTTO, Auteur ; Paulina MORALES, Auteur ; Cesar TRIGO, Auteur ; Isabel SALAS, Auteur ; Angelica M. ALLIENDE, Auteur ; David J. AMOR, Auteur ; David E. GODLER, Auteur Article en page(s) : 41 Langues : Anglais (eng) Mots-clés : Adolescent  Adult  Autism Spectrum Disorder/etiology/genetics/physiopathology  Behavioral Symptoms/etiology/genetics/physiopathology  Child  Child, Preschool  Cohort Studies  Female  Fragile X Mental Retardation Protein/genetics  Fragile X Syndrome/complications/genetics/physiopathology  Humans  Infant  Intellectual Disability/etiology/genetics/physiopathology  Male  Mosaicism  Mutation  Phenotype  Sex Factors  Young Adult  Autism spectrum disorder  Behaviour  Fragile X syndrome  Intellectual functioning Index. décimale : PER Périodiques Résumé : BACKGROUND: Fragile X syndrome (FXS) is a common cause of intellectual disability and autism spectrum disorder (ASD) usually associated with a CGG expansion, termed full mutation (FM: CGG ≥ 200), increased DNA methylation of the FMR1 promoter and silencing of the gene. Mosaicism for presence of cells with either methylated FM or smaller unmethylated pre-mutation (PM: CGG 55-199) alleles in the same individual have been associated with better cognitive functioning. This study compares age- and sex-matched FM-only and PM/FM mosaic individuals on intellectual functioning, ASD features and maladaptive behaviours. METHODS: This study comprised a large international cohort of 126 male and female participants with FXS (aged 1.15 to 43.17 years) separated into FM-only and PM/FM mosaic groups (90 males, 77.8% FM-only; 36 females, 77.8% FM-only). Intellectual functioning was assessed with age appropriate developmental or intelligence tests. The Autism Diagnostic Observation Schedule-2nd Edition was used to examine ASD features while the Aberrant Behavior Checklist-Community assessed maladaptive behaviours. RESULTS: Comparing males and females (FM-only + PM/FM mosaic), males had poorer intellectual functioning on all domains (p < 0.0001). Although females had less ASD features and less parent-reported maladaptive behaviours, these differences were no longer significant after controlling for intellectual functioning. Participants with PM/FM mosaicism, regardless of sex, presented with better intellectual functioning and less maladaptive behaviours compared with their age- and sex-matched FM-only counterparts (p < 0.05). ASD features were similar between FM-only and PM/FM mosaics within each sex, after controlling for overall intellectual functioning. CONCLUSIONS: Males with FXS had significantly lower intellectual functioning than females with FXS. However, there were no significant differences in ASD features and maladaptive behaviours, after controlling for intellectual functioning, independent of the presence or absence of mosaicism. This suggests that interventions that primarily target cognitive abilities may in turn reduce the severity of maladaptive behaviours including ASD features in FXS. En ligne : https://dx.doi.org/10.1186/s11689-019-9288-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=573 [article] Intellectual functioning and behavioural features associated with mosaicism in fragile X syndrome [texte imprimé] / Emma K. BAKER, Auteur ; Marta ARPONE, Auteur ; Solange Aliaga VERA, Auteur ; Lesley BRETHERTON, Auteur ; Alexandra URE, Auteur ; Claudine M. KRAAN, Auteur ; Minh BUI, Auteur ; Ling LING, Auteur ; David FRANCIS, Auteur ; Matthew F. HUNTER, Auteur ; Justine ELLIOTT, Auteur ; Carolyn ROGERS, Auteur ; Michael J. FIELD, Auteur ; Jonathan COHEN, Auteur ; Lorena Santa MARIA, Auteur ; Victor FAUNDES, Auteur ; Bianca CUROTTO, Auteur ; Paulina MORALES, Auteur ; Cesar TRIGO, Auteur ; Isabel SALAS, Auteur ; Angelica M. ALLIENDE, Auteur ; David J. AMOR, Auteur ; David E. GODLER, Auteur . - 41. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 11-1 (December 2019) . - 41 Mots-clés : Adolescent  Adult  Autism Spectrum Disorder/etiology/genetics/physiopathology  Behavioral Symptoms/etiology/genetics/physiopathology  Child  Child, Preschool  Cohort Studies  Female  Fragile X Mental Retardation Protein/genetics  Fragile X Syndrome/complications/genetics/physiopathology  Humans  Infant  Intellectual Disability/etiology/genetics/physiopathology  Male  Mosaicism  Mutation  Phenotype  Sex Factors  Young Adult  Autism spectrum disorder  Behaviour  Fragile X syndrome  Intellectual functioning Index. décimale : PER Périodiques Résumé : BACKGROUND: Fragile X syndrome (FXS) is a common cause of intellectual disability and autism spectrum disorder (ASD) usually associated with a CGG expansion, termed full mutation (FM: CGG ≥ 200), increased DNA methylation of the FMR1 promoter and silencing of the gene. Mosaicism for presence of cells with either methylated FM or smaller unmethylated pre-mutation (PM: CGG 55-199) alleles in the same individual have been associated with better cognitive functioning. This study compares age- and sex-matched FM-only and PM/FM mosaic individuals on intellectual functioning, ASD features and maladaptive behaviours. METHODS: This study comprised a large international cohort of 126 male and female participants with FXS (aged 1.15 to 43.17 years) separated into FM-only and PM/FM mosaic groups (90 males, 77.8% FM-only; 36 females, 77.8% FM-only). Intellectual functioning was assessed with age appropriate developmental or intelligence tests. The Autism Diagnostic Observation Schedule-2nd Edition was used to examine ASD features while the Aberrant Behavior Checklist-Community assessed maladaptive behaviours. RESULTS: Comparing males and females (FM-only + PM/FM mosaic), males had poorer intellectual functioning on all domains (p < 0.0001). Although females had less ASD features and less parent-reported maladaptive behaviours, these differences were no longer significant after controlling for intellectual functioning. Participants with PM/FM mosaicism, regardless of sex, presented with better intellectual functioning and less maladaptive behaviours compared with their age- and sex-matched FM-only counterparts (p < 0.05). ASD features were similar between FM-only and PM/FM mosaics within each sex, after controlling for overall intellectual functioning. CONCLUSIONS: Males with FXS had significantly lower intellectual functioning than females with FXS. However, there were no significant differences in ASD features and maladaptive behaviours, after controlling for intellectual functioning, independent of the presence or absence of mosaicism. This suggests that interventions that primarily target cognitive abilities may in turn reduce the severity of maladaptive behaviours including ASD features in FXS. En ligne : https://dx.doi.org/10.1186/s11689-019-9288-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=573

The Cost of Raising Individuals with Fragile X or Chromosome 15 Imprinting Disorders in Australia / Emma K. BAKER in Journal of Autism and Developmental Disorders, 53-4 (April 2023)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 53-4 (April 2023) . - p.1682-1692 Titre : The Cost of Raising Individuals with Fragile X or Chromosome 15 Imprinting Disorders in Australia Type de document : texte imprimé Auteurs : Emma K. BAKER, Auteur ; Sheena ARORA, Auteur ; David J. AMOR, Auteur ; Perrin DATE, Auteur ; Meagan CROSS, Auteur ; James O'BRIEN, Auteur ; Chloe SIMONS, Auteur ; Carolyn ROGERS, Auteur ; Stephen GOODALL, Auteur ; Jennie SLEE, Auteur ; Chris CAHIR, Auteur ; David E. GODLER, Auteur Article en page(s) : p.1682-1692 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : The study characterised differences in costs associated with raising a child between four rare disorders and examined the associations between these costs with clinical severity. Caregivers of 108 individuals with Prader-Willi, Angelman (AS), Chromosome 15q Duplication and fragile X (FXS) syndromes completed a modified Client Services Receipt Inventory and participants completed intellectual/developmental functioning and autism assessments. AS incurred the highest yearly costs per individual ($AUD96,994), while FXS had the lowest costs ($AUD33,221). Intellectual functioning negatively predicted total costs, after controlling for diagnosis. The effect of intellectual functioning on total costs for those with AS was significantly different to the other syndromes. The study highlights the significant costs associated with these syndromes, particularly AS, linked with severity of intellectual functioning. En ligne : https://doi.org/10.1007/s10803-021-05193-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=500 [article] The Cost of Raising Individuals with Fragile X or Chromosome 15 Imprinting Disorders in Australia [texte imprimé] / Emma K. BAKER, Auteur ; Sheena ARORA, Auteur ; David J. AMOR, Auteur ; Perrin DATE, Auteur ; Meagan CROSS, Auteur ; James O'BRIEN, Auteur ; Chloe SIMONS, Auteur ; Carolyn ROGERS, Auteur ; Stephen GOODALL, Auteur ; Jennie SLEE, Auteur ; Chris CAHIR, Auteur ; David E. GODLER, Auteur . - p.1682-1692. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 53-4 (April 2023) . - p.1682-1692 Index. décimale : PER Périodiques Résumé : The study characterised differences in costs associated with raising a child between four rare disorders and examined the associations between these costs with clinical severity. Caregivers of 108 individuals with Prader-Willi, Angelman (AS), Chromosome 15q Duplication and fragile X (FXS) syndromes completed a modified Client Services Receipt Inventory and participants completed intellectual/developmental functioning and autism assessments. AS incurred the highest yearly costs per individual ($AUD96,994), while FXS had the lowest costs ($AUD33,221). Intellectual functioning negatively predicted total costs, after controlling for diagnosis. The effect of intellectual functioning on total costs for those with AS was significantly different to the other syndromes. The study highlights the significant costs associated with these syndromes, particularly AS, linked with severity of intellectual functioning. En ligne : https://doi.org/10.1007/s10803-021-05193-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=500

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