Interplay of circadian clock and melatonin pathway gene variants in adults with autism, intellectual disability and sleep problems / Pura BALLESTER-NAVARRO in Research in Autism Spectrum Disorders, 81 (March 2021)  

Public ISBD [article]  inResearch in Autism Spectrum Disorders > 81 (March 2021) . - 101715 Titre : Interplay of circadian clock and melatonin pathway gene variants in adults with autism, intellectual disability and sleep problems Type de document : Texte imprimé et/ou numérique Auteurs : Pura BALLESTER-NAVARRO, Auteur ; María José MARTÍNEZ-MADRID, Auteur ; Auxiliadora JAVALOYES-SANCHÍS, Auteur ; César BELDA-CANTÓ, Auteur ; Víctor AGUILAR, Auteur ; María-del-Mar INDA, Auteur ; Amanda L. RICHDALE, Auteur ; Javier MURIEL, Auteur ; Domingo MORALES, Auteur ; Ana M. PEIRÓ, Auteur Article en page(s) : 101715 Langues : Anglais (eng) Mots-clés : Autism spectrum disorder  Sleep problems  genes  Ambulatory circadian monitoring Index. décimale : PER Périodiques Résumé : Background People diagnosed with Autism Spectrum Disorder and intellectual disability (ID) usually experience sleep problems, where circadian clock and melatonin pathway genes may play a role. Method Our aim was to analyze the influence of genetic variants PER1, ASMT, NPAS2, and MTNR1A by MassARRAY, in sleep-wake rhythms in a group of autistic adults with ID, cases (n = 83) and controls (n = 25). Sleep-wake rhythms were evaluated with ambulatory circadian monitoring. Results In autistic cases (age 18?41years), PER1 rs6416892-GG and ASMT rs5989681-GG genotypes had a better sleep pattern according to sleep onset latency and awakenings; together with a worse sleep and/or temperature rhythm. Furthermore, diurnal temperature values were affected by NPAS2 rs1811399-CC genotype. Conclusions Normal and abnormal sleep-wake rhythms could be related to circadian clock (PER1) and melatonin pathway (ASMT) gene variants. There is a need for further research to translate this data into clinical decisions or risk profiles. En ligne : https://doi.org/10.1016/j.rasd.2020.101715 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=440 [article] Interplay of circadian clock and melatonin pathway gene variants in adults with autism, intellectual disability and sleep problems [Texte imprimé et/ou numérique] / Pura BALLESTER-NAVARRO, Auteur ; María José MARTÍNEZ-MADRID, Auteur ; Auxiliadora JAVALOYES-SANCHÍS, Auteur ; César BELDA-CANTÓ, Auteur ; Víctor AGUILAR, Auteur ; María-del-Mar INDA, Auteur ; Amanda L. RICHDALE, Auteur ; Javier MURIEL, Auteur ; Domingo MORALES, Auteur ; Ana M. PEIRÓ, Auteur . - 101715. Langues : Anglais (eng) in Research in Autism Spectrum Disorders > 81 (March 2021) . - 101715 Mots-clés : Autism spectrum disorder  Sleep problems  genes  Ambulatory circadian monitoring Index. décimale : PER Périodiques Résumé : Background People diagnosed with Autism Spectrum Disorder and intellectual disability (ID) usually experience sleep problems, where circadian clock and melatonin pathway genes may play a role. Method Our aim was to analyze the influence of genetic variants PER1, ASMT, NPAS2, and MTNR1A by MassARRAY, in sleep-wake rhythms in a group of autistic adults with ID, cases (n = 83) and controls (n = 25). Sleep-wake rhythms were evaluated with ambulatory circadian monitoring. Results In autistic cases (age 18?41years), PER1 rs6416892-GG and ASMT rs5989681-GG genotypes had a better sleep pattern according to sleep onset latency and awakenings; together with a worse sleep and/or temperature rhythm. Furthermore, diurnal temperature values were affected by NPAS2 rs1811399-CC genotype. Conclusions Normal and abnormal sleep-wake rhythms could be related to circadian clock (PER1) and melatonin pathway (ASMT) gene variants. There is a need for further research to translate this data into clinical decisions or risk profiles. En ligne : https://doi.org/10.1016/j.rasd.2020.101715 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=440

Sleep problems in adults with autism spectrum disorder and intellectual disability / P. BALLESTER in Autism Research, 12-1 (January 2019)  

Public ISBD [article]  inAutism Research > 12-1 (January 2019) . - p.66-79 Titre : Sleep problems in adults with autism spectrum disorder and intellectual disability Type de document : Texte imprimé et/ou numérique Auteurs : P. BALLESTER, Auteur ; M. J. MARTINEZ, Auteur ; A. JAVALOYES, Auteur ; M. D. INDA, Auteur ; N. FERNANDEZ, Auteur ; P. GAZQUEZ, Auteur ; Víctor AGUILAR, Auteur ; A. PEREZ, Auteur ; L. HERNANDEZ, Auteur ; A. L. RICHDALE, Auteur ; A. M. PEIRO, Auteur Article en page(s) : p.66-79 Langues : Anglais (eng) Mots-clés : autism spectrum disorder  circadian rhythm  circadian rhythm sleep-wake disorder  intellectual disability  sleep problems Index. décimale : PER Périodiques Résumé : Sleep problems (SP) are recognized as a common comorbid condition in autism spectrum disorder (ASD) and can influence core autism symptoms and mental and physical health. SPs can be lifelong and have been reported that adults on the autistic spectrum with and without intellectual disability (ID) present SPs (longer sleep latency, frequent night awakenings, and circadian rhythm sleep-wake disorders). A prospective, objective sleep study was conducted in 41 adults with ASD (33 +/- 6 years old) and ID and 51 typically developing adults (33 +/- 5 years old) using ambulatory circadian monitoring (ACM) recording wrist temperature, motor activity, body position, sleep, and light intensity. The findings indicated that individuals with ASD presented sleep difficulties including low sleep efficiency, prolonged sleep latency and increased number and length of night awakenings, together with daily sedentary behavior, and increased nocturnal activity. Furthermore, indications of an advanced sleep-wake phase disorder were found in these autistic adults. Examining sleep and markers of the circadian system showed significant differences between adults with ASD and ID and an age-matched, healthy adult population. The sleep disturbances described for this sample of adults with ASD and ID are similar to those of already described for adults with ASD without ID; their relationship with intellectual ability should be further studied. Improving knowledge of sleep patterns in ASD adults with ID might help to designed targeted interventions to improve their functioning and reduce family stress. Autism Research 2019, 12: 66-79. (c) 2018 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: SPs are very frequent in autism from childhood to adulthood. We recorded sleep with a watch-like device in adults with autism and ID and compared sleep patterns with nonautistic volunteers. Results showed poorer sleep conditions in adults with autism (increased sleep latency and number/length of night awakenings) that resulted in decreased sleep efficiency. Increasing knowledge of the SPs in adults on the autism spectrum will allow to improve their and their families' quality of life. En ligne : http://dx.doi.org/10.1002/aur.2000 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=376 [article] Sleep problems in adults with autism spectrum disorder and intellectual disability [Texte imprimé et/ou numérique] / P. BALLESTER, Auteur ; M. J. MARTINEZ, Auteur ; A. JAVALOYES, Auteur ; M. D. INDA, Auteur ; N. FERNANDEZ, Auteur ; P. GAZQUEZ, Auteur ; Víctor AGUILAR, Auteur ; A. PEREZ, Auteur ; L. HERNANDEZ, Auteur ; A. L. RICHDALE, Auteur ; A. M. PEIRO, Auteur . - p.66-79. Langues : Anglais (eng) in Autism Research > 12-1 (January 2019) . - p.66-79 Mots-clés : autism spectrum disorder  circadian rhythm  circadian rhythm sleep-wake disorder  intellectual disability  sleep problems Index. décimale : PER Périodiques Résumé : Sleep problems (SP) are recognized as a common comorbid condition in autism spectrum disorder (ASD) and can influence core autism symptoms and mental and physical health. SPs can be lifelong and have been reported that adults on the autistic spectrum with and without intellectual disability (ID) present SPs (longer sleep latency, frequent night awakenings, and circadian rhythm sleep-wake disorders). A prospective, objective sleep study was conducted in 41 adults with ASD (33 +/- 6 years old) and ID and 51 typically developing adults (33 +/- 5 years old) using ambulatory circadian monitoring (ACM) recording wrist temperature, motor activity, body position, sleep, and light intensity. The findings indicated that individuals with ASD presented sleep difficulties including low sleep efficiency, prolonged sleep latency and increased number and length of night awakenings, together with daily sedentary behavior, and increased nocturnal activity. Furthermore, indications of an advanced sleep-wake phase disorder were found in these autistic adults. Examining sleep and markers of the circadian system showed significant differences between adults with ASD and ID and an age-matched, healthy adult population. The sleep disturbances described for this sample of adults with ASD and ID are similar to those of already described for adults with ASD without ID; their relationship with intellectual ability should be further studied. Improving knowledge of sleep patterns in ASD adults with ID might help to designed targeted interventions to improve their functioning and reduce family stress. Autism Research 2019, 12: 66-79. (c) 2018 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: SPs are very frequent in autism from childhood to adulthood. We recorded sleep with a watch-like device in adults with autism and ID and compared sleep patterns with nonautistic volunteers. Results showed poorer sleep conditions in adults with autism (increased sleep latency and number/length of night awakenings) that resulted in decreased sleep efficiency. Increasing knowledge of the SPs in adults on the autism spectrum will allow to improve their and their families' quality of life. En ligne : http://dx.doi.org/10.1002/aur.2000 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=376

The challenge of detecting adverse events in adults with autism spectrum disorder who have intellectual disability / P. BALLESTER in Autism Research, 15-1 (January 2022)  

Public ISBD [article]  inAutism Research > 15-1 (January 2022) . - p.192-202 Titre : The challenge of detecting adverse events in adults with autism spectrum disorder who have intellectual disability Type de document : Texte imprimé et/ou numérique Auteurs : P. BALLESTER, Auteur ; C. ESPADAS, Auteur ; A. C. LONDOÑO, Auteur ; S. ALMENARA, Auteur ; Víctor AGUILAR, Auteur ; C. BELDA, Auteur ; E. PÉREZ, Auteur ; J. MURIEL, Auteur ; A. M. PEIRO, Auteur Article en page(s) : p.192-202 Langues : Anglais (eng) Mots-clés : Adult  Autism Spectrum Disorder/drug therapy  Humans  Intellectual Disability  Male  Prospective Studies  Psychotropic Drugs/therapeutic use  Retrospective Studies  adverse events  autism spectrum disorder  pharmacovigilance Index. décimale : PER Périodiques Résumé : Adults with autism spectrum disorder (ASD) and associated intellectual disability (ID) take a high number of different psychotropic drugs simultaneously. Nowadays, little is known about this multidrug pattern efficacy and safety. The present study has endeavored to fill this gap creating a local pharmacovigilance system. A 36-month, retrospective and prospective, observational, and multicenter pharmacovigilance study was carried out in adults with ASD and ID (n = 83). Information regarding ongoing medications (polypharmacy: taking simultaneously >4 drugs; safety profile: adverse events' number, adverse drug reactions' number, and affected system; and observed-to-expected [O/E] ratio using the summary of product characteristics), and current diagnoses were recorded. A median of four ongoing medications per participant was registered, half of the sample was under polypharmacy regimen. Regarding all ongoing medications, 50% were antipsychotic drugs, and 47% of participants had >1 antipsychotic prescribed. In contrast, only 64 adverse events were identified from electronic health records, mostly due to risperidone. Half of them were related either to nervous or metabolic systems, and almost a third were not previously described in the corresponding drug summary of products characteristics. Extrapyramidalism, gynecomastia, hypercholesterolemia, and urinary retention were some AEs that occurred more frequently than expected (O/E ratio?>?6 times) according to our data. The highest O/E ratio scores (>120 times) were for hypercholesterolemia and rhabdomyolysis caused by valproic acid. According to the number of adverse events and adverse drug reactions reported in electronic health records locally and nationally by clinicians, we need to increase awareness about medications safety. LAY SUMMARY: A 36-month study in adults with autism, ID, and polypharmacy (>4 drugs) was done to investigate drug safety on everyone. A median of four medications per person was registered, half were antipsychotic drugs, and 47% of participants had >1 antipsychotic medication simultaneously. Only 64 adverse events were identified from electronic health records, mostly due to risperidone. Half of them were related to nervous or metabolic systems and a third were not previously described in the drug information sheet. En ligne : http://dx.doi.org/10.1002/aur.2624 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=450 [article] The challenge of detecting adverse events in adults with autism spectrum disorder who have intellectual disability [Texte imprimé et/ou numérique] / P. BALLESTER, Auteur ; C. ESPADAS, Auteur ; A. C. LONDOÑO, Auteur ; S. ALMENARA, Auteur ; Víctor AGUILAR, Auteur ; C. BELDA, Auteur ; E. PÉREZ, Auteur ; J. MURIEL, Auteur ; A. M. PEIRO, Auteur . - p.192-202. Langues : Anglais (eng) in Autism Research > 15-1 (January 2022) . - p.192-202 Mots-clés : Adult  Autism Spectrum Disorder/drug therapy  Humans  Intellectual Disability  Male  Prospective Studies  Psychotropic Drugs/therapeutic use  Retrospective Studies  adverse events  autism spectrum disorder  pharmacovigilance Index. décimale : PER Périodiques Résumé : Adults with autism spectrum disorder (ASD) and associated intellectual disability (ID) take a high number of different psychotropic drugs simultaneously. Nowadays, little is known about this multidrug pattern efficacy and safety. The present study has endeavored to fill this gap creating a local pharmacovigilance system. A 36-month, retrospective and prospective, observational, and multicenter pharmacovigilance study was carried out in adults with ASD and ID (n = 83). Information regarding ongoing medications (polypharmacy: taking simultaneously >4 drugs; safety profile: adverse events' number, adverse drug reactions' number, and affected system; and observed-to-expected [O/E] ratio using the summary of product characteristics), and current diagnoses were recorded. A median of four ongoing medications per participant was registered, half of the sample was under polypharmacy regimen. Regarding all ongoing medications, 50% were antipsychotic drugs, and 47% of participants had >1 antipsychotic prescribed. In contrast, only 64 adverse events were identified from electronic health records, mostly due to risperidone. Half of them were related either to nervous or metabolic systems, and almost a third were not previously described in the corresponding drug summary of products characteristics. Extrapyramidalism, gynecomastia, hypercholesterolemia, and urinary retention were some AEs that occurred more frequently than expected (O/E ratio?>?6 times) according to our data. The highest O/E ratio scores (>120 times) were for hypercholesterolemia and rhabdomyolysis caused by valproic acid. According to the number of adverse events and adverse drug reactions reported in electronic health records locally and nationally by clinicians, we need to increase awareness about medications safety. LAY SUMMARY: A 36-month study in adults with autism, ID, and polypharmacy (>4 drugs) was done to investigate drug safety on everyone. A median of four medications per person was registered, half were antipsychotic drugs, and 47% of participants had >1 antipsychotic medication simultaneously. Only 64 adverse events were identified from electronic health records, mostly due to risperidone. Half of them were related to nervous or metabolic systems and a third were not previously described in the drug information sheet. En ligne : http://dx.doi.org/10.1002/aur.2624 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=450

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