Assessing a hyperarousal hypothesis of insomnia in adults with autism spectrum disorder / E. K. BAKER in Autism Research, 12-6 (June 2019)  

Public ISBD [article]  inAutism Research > 12-6 (June 2019) . - p.897-910 Titre : Assessing a hyperarousal hypothesis of insomnia in adults with autism spectrum disorder Type de document : Texte imprimé et/ou numérique Auteurs : E. K. BAKER, Auteur ; A. L. RICHDALE, Auteur ; Agnes HAZI, Auteur ; Luke A. PRENDERGAST, Auteur Année de publication : 2019 Article en page(s) : p.897-910 Langues : Anglais (eng) Mots-clés : anxiety  autism  cortisol  hyperarousal  insomnia  sleep Index. décimale : PER Périodiques Résumé : This study aimed to investigate the relationship between sleep, psychopathology (anxiety, depression and presleep arousal) symptoms, and cortisol in adults with autism spectrum disorder (ASD). The sample composed of 29 adults with ASD (51.7% males) and 29 control adults (51.7% males) aged 21-44 years. Thirteen adults with ASD were medicated for a comorbid diagnosis of anxiety and/or depression (ASD-Med), while the remaining 16 adults with ASD were not medicated for such diagnoses (ASD-Only). Participants completed a questionnaire battery, 14-day sleep/wake diary and 14-day actigraphy assessment. On one day during the data collection period, participants collected five saliva samples, hourly, prior to sleep and two morning samples; immediately upon waking and 30 min thereafter for the analysis of cortisol. Cortisol 1 hr prior to habitual sleep onset time was associated with poorer sleep efficiency in both ASD groups and increased wake after sleep onset duration (ASD-Only). Higher subjective somatic arousal was also associated with increased sleep onset latency, regardless of group, and poorer sleep efficiency in the ASD-Only group. ASD-Only participants had significantly greater reductions in evening cortisol concentrations compared to both ASD-Med and control participants. No significant group differences were found for the cortisol awakening response. Findings suggest a hyperarousal hypothesis of insomnia in adults with ASD. Moreover, the low cortisol levels observed in ASD-Only adults suggest dysregulation of the hypothalamic-pituitary-adrenal (HPA) axis. Longitudinal studies exploring the interplay between insomnia, anxiety and HPA axis regulation across the lifespan in those with ASD are warranted. Autism Res 2019, 12: 897-910. (c) 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: Both objective (cortisol) and subjective (somatic) physiological arousal were associated with poor sleep quality in adults on the autism spectrum. Adults with autism spectrum disorder (ASD) who were not medicated for a comorbid diagnosis of anxiety and/or depression also had dampened cortisol secretion, suggesting a dysregulation of the hypothalamic pituitary axis. Longitudinal studies investigating the relationship between sleep, psychopathology symptoms and physiological arousal in autistic individuals are warranted. Autism Res 2019. (c) 2019 International Society for Autism Research, Wiley Periodicals, Inc. En ligne : https://dx.doi.org/10.1002/aur.2094 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=400 [article] Assessing a hyperarousal hypothesis of insomnia in adults with autism spectrum disorder [Texte imprimé et/ou numérique] / E. K. BAKER, Auteur ; A. L. RICHDALE, Auteur ; Agnes HAZI, Auteur ; Luke A. PRENDERGAST, Auteur . - 2019 . - p.897-910. Langues : Anglais (eng) in Autism Research > 12-6 (June 2019) . - p.897-910 Mots-clés : anxiety  autism  cortisol  hyperarousal  insomnia  sleep Index. décimale : PER Périodiques Résumé : This study aimed to investigate the relationship between sleep, psychopathology (anxiety, depression and presleep arousal) symptoms, and cortisol in adults with autism spectrum disorder (ASD). The sample composed of 29 adults with ASD (51.7% males) and 29 control adults (51.7% males) aged 21-44 years. Thirteen adults with ASD were medicated for a comorbid diagnosis of anxiety and/or depression (ASD-Med), while the remaining 16 adults with ASD were not medicated for such diagnoses (ASD-Only). Participants completed a questionnaire battery, 14-day sleep/wake diary and 14-day actigraphy assessment. On one day during the data collection period, participants collected five saliva samples, hourly, prior to sleep and two morning samples; immediately upon waking and 30 min thereafter for the analysis of cortisol. Cortisol 1 hr prior to habitual sleep onset time was associated with poorer sleep efficiency in both ASD groups and increased wake after sleep onset duration (ASD-Only). Higher subjective somatic arousal was also associated with increased sleep onset latency, regardless of group, and poorer sleep efficiency in the ASD-Only group. ASD-Only participants had significantly greater reductions in evening cortisol concentrations compared to both ASD-Med and control participants. No significant group differences were found for the cortisol awakening response. Findings suggest a hyperarousal hypothesis of insomnia in adults with ASD. Moreover, the low cortisol levels observed in ASD-Only adults suggest dysregulation of the hypothalamic-pituitary-adrenal (HPA) axis. Longitudinal studies exploring the interplay between insomnia, anxiety and HPA axis regulation across the lifespan in those with ASD are warranted. Autism Res 2019, 12: 897-910. (c) 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: Both objective (cortisol) and subjective (somatic) physiological arousal were associated with poor sleep quality in adults on the autism spectrum. Adults with autism spectrum disorder (ASD) who were not medicated for a comorbid diagnosis of anxiety and/or depression also had dampened cortisol secretion, suggesting a dysregulation of the hypothalamic pituitary axis. Longitudinal studies investigating the relationship between sleep, psychopathology symptoms and physiological arousal in autistic individuals are warranted. Autism Res 2019. (c) 2019 International Society for Autism Research, Wiley Periodicals, Inc. En ligne : https://dx.doi.org/10.1002/aur.2094 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=400

Employment status is related to sleep problems in adults with autism spectrum disorder and no comorbid intellectual impairment / E. K. BAKER in Autism, 23-2 (February 2019)  

Public ISBD [article]  inAutism > 23-2 (February 2019) . - p.531-536 Titre : Employment status is related to sleep problems in adults with autism spectrum disorder and no comorbid intellectual impairment Type de document : Texte imprimé et/ou numérique Auteurs : E. K. BAKER, Auteur ; A. L. RICHDALE, Auteur ; Agnes HAZI, Auteur Article en page(s) : p.531-536 Langues : Anglais (eng) Mots-clés : autism  circadian rhythm sleep-wake disorder  employment  insomnia  sleep Index. décimale : PER Périodiques Résumé : Both sleep problems and unemployment are common in adults with autism spectrum disorder; however, little research has explored this relationship in this population. This study aimed to explore factors that may be associated with the presence of an International Classification of Sleep Disorders-Third Edition defined sleep disorder in adults with autism spectrum disorder (IQ > 80). A total of 36 adults with autism spectrum disorder and 36 controls were included in the study. Participants completed a 14-day actigraphy assessment and questionnaire battery. Overall, 20 adults with autism spectrum disorder met the International Classification of Sleep Disorders-Third Edition criteria for insomnia and/or a circadian rhythm sleep-wake disorder, while only 4 controls met criteria for these disorders. Adults with autism spectrum disorder and an International Classification of Sleep Disorders-Third Edition sleep disorder had higher scores on the Pittsburgh Sleep Quality Index and were more likely to be unemployed compared to adults with autism spectrum disorder and no sleep disorder. The findings demonstrate, for the first time, that sleep problems are associated with unemployment in adults with autism spectrum disorder. Further research exploring the direction of this effect is required; sleep problems that have developed during adolescence make attainment of employment for those with autism spectrum disorder difficult, or unemployment results in less restrictions required for optimal and appropriate sleep timing. En ligne : http://dx.doi.org/10.1177/1362361317745857 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=383 [article] Employment status is related to sleep problems in adults with autism spectrum disorder and no comorbid intellectual impairment [Texte imprimé et/ou numérique] / E. K. BAKER, Auteur ; A. L. RICHDALE, Auteur ; Agnes HAZI, Auteur . - p.531-536. Langues : Anglais (eng) in Autism > 23-2 (February 2019) . - p.531-536 Mots-clés : autism  circadian rhythm sleep-wake disorder  employment  insomnia  sleep Index. décimale : PER Périodiques Résumé : Both sleep problems and unemployment are common in adults with autism spectrum disorder; however, little research has explored this relationship in this population. This study aimed to explore factors that may be associated with the presence of an International Classification of Sleep Disorders-Third Edition defined sleep disorder in adults with autism spectrum disorder (IQ > 80). A total of 36 adults with autism spectrum disorder and 36 controls were included in the study. Participants completed a 14-day actigraphy assessment and questionnaire battery. Overall, 20 adults with autism spectrum disorder met the International Classification of Sleep Disorders-Third Edition criteria for insomnia and/or a circadian rhythm sleep-wake disorder, while only 4 controls met criteria for these disorders. Adults with autism spectrum disorder and an International Classification of Sleep Disorders-Third Edition sleep disorder had higher scores on the Pittsburgh Sleep Quality Index and were more likely to be unemployed compared to adults with autism spectrum disorder and no sleep disorder. The findings demonstrate, for the first time, that sleep problems are associated with unemployment in adults with autism spectrum disorder. Further research exploring the direction of this effect is required; sleep problems that have developed during adolescence make attainment of employment for those with autism spectrum disorder difficult, or unemployment results in less restrictions required for optimal and appropriate sleep timing. En ligne : http://dx.doi.org/10.1177/1362361317745857 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=383

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

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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