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Lower circulating endocannabinoid levels in children with autism spectrum disorder / Adi ARAN in Molecular Autism, 10 (2019)
[article]
Titre : Lower circulating endocannabinoid levels in children with autism spectrum disorder Type de document : Texte imprimé et/ou numérique Auteurs : Adi ARAN, Auteur ; M. EYLON, Auteur ; M. HAREL, Auteur ; L. POLIANSKI, Auteur ; A. NEMIROVSKI, Auteur ; S. TEPPER, Auteur ; A. SCHNAPP, Auteur ; Hanoch CASSUTO, Auteur ; N. WATTAD, Auteur ; J. TAM, Auteur Article en page(s) : 2 p. Langues : Anglais (eng) Mots-clés : *2-arachidonoylglycerol *Anandamide *Arachidonic acid *Autism spectrum disorder *Biomarkers *Cannabinoids *Endocannabinoid system *N-arachidonoylethanolamine *N-oleoylethanolamine *N-palmitoylethanolamine Board and Israeli Ministry of Health prior to participant enrollment. Participants' parents provided written consent prior to initiation of any experimental procedures, and written assent was obtained from participants when appropriate.Not applicable.The authors declare that they have no competing interests.Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations. Index. décimale : PER Périodiques Résumé : Background: The endocannabinoid system (ECS) is a major regulator of synaptic plasticity and neuromodulation. Alterations of the ECS have been demonstrated in several animal models of autism spectrum disorder (ASD). In some of these models, activating the ECS rescued the social deficits. Evidence for dysregulations of the ECS in human ASD are emerging, but comprehensive assessments and correlations with disease characteristics have not been reported yet. Methods: Serum levels of the main endocannabinoids, N-arachidonoylethanolamine (AEA or anandamide) and 2-arachidonoylglycerol (2-AG), and their related endogenous compounds, arachidonic acid (AA), N-palmitoylethanolamine (PEA), and N-oleoylethanolamine (OEA), were analyzed by liquid chromatography/tandem mass spectrometry in 93 children with ASD (age = 13.1 +/- 4.1, range 6-21; 79% boys) and 93 age- and gender-matched neurotypical children (age = 11.8 +/- 4.3, range 5.5-21; 79% boys). Results were associated with gender and use of medications, and were correlated with age, BMI, and adaptive functioning of ASD participants as reflected by scores of Autism Diagnostic Observation Schedule (ADOS-2), Vineland Adaptive Behavior Scale-II (VABS-II), and Social Responsiveness Scale-II (SRS-2). Results: Children with ASD had lower levels (pmol/mL, mean +/- SEM) of AEA (0.722 +/- 0.045 vs. 1.252 +/- 0.072, P < 0.0001, effect size 0.91), OEA (17.3 +/- 0.80 vs. 27.8 +/- 1.44, P < 0.0001, effect size 0.94), and PEA (4.93 +/- 0.32 vs. 7.15 +/- 0.37, P < 0.0001, effect size 0.65), but not AA and 2-AG. Serum levels of AEA, OEA, and PEA were not significantly associated or correlated with age, gender, BMI, medications, and adaptive functioning of ASD participants. In children with ASD, but not in the control group, younger age and lower BMI tended to correlate with lower AEA levels. However, these correlations were not statistically significant after a correction for multiple comparisons. Conclusions: We found lower serum levels of AEA, PEA, and OEA in children with ASD. Further studies are needed to determine whether circulating endocannabinoid levels can be used as stratification biomarkers that identify clinically significant subgroups within the autism spectrum and if they reflect lower endocannabinoid "tone" in the brain, as found in animal models of ASD. En ligne : https://dx.doi.org/10.1186/s13229-019-0256-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=389
in Molecular Autism > 10 (2019) . - 2 p.[article] Lower circulating endocannabinoid levels in children with autism spectrum disorder [Texte imprimé et/ou numérique] / Adi ARAN, Auteur ; M. EYLON, Auteur ; M. HAREL, Auteur ; L. POLIANSKI, Auteur ; A. NEMIROVSKI, Auteur ; S. TEPPER, Auteur ; A. SCHNAPP, Auteur ; Hanoch CASSUTO, Auteur ; N. WATTAD, Auteur ; J. TAM, Auteur . - 2 p.
Langues : Anglais (eng)
in Molecular Autism > 10 (2019) . - 2 p.
Mots-clés : *2-arachidonoylglycerol *Anandamide *Arachidonic acid *Autism spectrum disorder *Biomarkers *Cannabinoids *Endocannabinoid system *N-arachidonoylethanolamine *N-oleoylethanolamine *N-palmitoylethanolamine Board and Israeli Ministry of Health prior to participant enrollment. Participants' parents provided written consent prior to initiation of any experimental procedures, and written assent was obtained from participants when appropriate.Not applicable.The authors declare that they have no competing interests.Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations. Index. décimale : PER Périodiques Résumé : Background: The endocannabinoid system (ECS) is a major regulator of synaptic plasticity and neuromodulation. Alterations of the ECS have been demonstrated in several animal models of autism spectrum disorder (ASD). In some of these models, activating the ECS rescued the social deficits. Evidence for dysregulations of the ECS in human ASD are emerging, but comprehensive assessments and correlations with disease characteristics have not been reported yet. Methods: Serum levels of the main endocannabinoids, N-arachidonoylethanolamine (AEA or anandamide) and 2-arachidonoylglycerol (2-AG), and their related endogenous compounds, arachidonic acid (AA), N-palmitoylethanolamine (PEA), and N-oleoylethanolamine (OEA), were analyzed by liquid chromatography/tandem mass spectrometry in 93 children with ASD (age = 13.1 +/- 4.1, range 6-21; 79% boys) and 93 age- and gender-matched neurotypical children (age = 11.8 +/- 4.3, range 5.5-21; 79% boys). Results were associated with gender and use of medications, and were correlated with age, BMI, and adaptive functioning of ASD participants as reflected by scores of Autism Diagnostic Observation Schedule (ADOS-2), Vineland Adaptive Behavior Scale-II (VABS-II), and Social Responsiveness Scale-II (SRS-2). Results: Children with ASD had lower levels (pmol/mL, mean +/- SEM) of AEA (0.722 +/- 0.045 vs. 1.252 +/- 0.072, P < 0.0001, effect size 0.91), OEA (17.3 +/- 0.80 vs. 27.8 +/- 1.44, P < 0.0001, effect size 0.94), and PEA (4.93 +/- 0.32 vs. 7.15 +/- 0.37, P < 0.0001, effect size 0.65), but not AA and 2-AG. Serum levels of AEA, OEA, and PEA were not significantly associated or correlated with age, gender, BMI, medications, and adaptive functioning of ASD participants. In children with ASD, but not in the control group, younger age and lower BMI tended to correlate with lower AEA levels. However, these correlations were not statistically significant after a correction for multiple comparisons. Conclusions: We found lower serum levels of AEA, PEA, and OEA in children with ASD. Further studies are needed to determine whether circulating endocannabinoid levels can be used as stratification biomarkers that identify clinically significant subgroups within the autism spectrum and if they reflect lower endocannabinoid "tone" in the brain, as found in animal models of ASD. En ligne : https://dx.doi.org/10.1186/s13229-019-0256-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=389 Autism spectrum disorders, endocrine disrupting compounds, and heavy metals in amniotic fluid: a case-control study / M. LONG in Molecular Autism, 10 (2019)
[article]
Titre : Autism spectrum disorders, endocrine disrupting compounds, and heavy metals in amniotic fluid: a case-control study Type de document : Texte imprimé et/ou numérique Auteurs : M. LONG, Auteur ; M. GHISARI, Auteur ; L. KJELDSEN, Auteur ; M. WIELSOE, Auteur ; B. NORGAARD-PEDERSEN, Auteur ; E. L. MORTENSEN, Auteur ; Morsi W. ABDALLAH, Auteur ; E. C. BONEFELD-JORGENSEN, Auteur Article en page(s) : 1 p. Langues : Anglais (eng) Mots-clés : Adolescent Adult Amniotic Fluid/*chemistry Animals Autism Spectrum Disorder/epidemiology/*etiology CHO Cells Case-Control Studies Child Cricetinae Cricetulus Endocrine Disruptors/*analysis/toxicity Female Humans Infant, Newborn Male Metals, Heavy/*analysis/toxicity Middle Aged *Amniotic fluid *Autism *Endocrine disrupting compounds *Receptor activity Newborn Screening Biobank and the Danish Data Protection Agency (Record No. 2009-41-3173) as well as the Central Denmark Region Ethics Committee on Health Research (Record No. M-20090066). Since all data were obtained retrospectively in an anonymized manner, there was no need to obtain consent from any of the participants.Not applicableThe authors declare that they have no competing interests.Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations. Index. décimale : PER Périodiques Résumé : Background: Evidence has indicated that some non-inherited factors such as exposure to environmental pollutants are associated with neurodevelopment disorders like autism spectrum disorder (ASD). Studies report that endocrine disrupting compounds (EDCs), including polychlorinated biphenyls, organochlorine pesticides, perfluoroalkyl substances (PFAS), and some metals, have adverse effects on the fetal neurodevelopment. The aim of this study was to measure the amniotic fluid (AF) levels of EDCs and metals as well as the receptor transactivities induced by AF and investigate the possible link between prenatal exposure to EDCs and heavy metals and ASD risk. Methods: In this case-control study, we included AF samples of 75 ASD cases and 135 frequency-matched controls and measured the levels of the endogenous sex hormones, PFAS, and elements including heavy metals. The combined effect of endogenous hormones and EDCs on the receptor of estrogen (ER), androgen (AR), aryl hydrocarbon (AhR), and thyroid hormone-like activity were also determined and expressed as receptor ligand equivalents. We assessed the associations of AF levels of chemicals, sex hormones, and receptor activities with ASD risk using unconditional logistical regression analyses. To control for multiple comparisons, the false discovery rate (FDR) was used and q values less than 0.25 were designated as statistical significance. Results: PFAS and metals were detectable in AF samples. The ASD cases had significantly lower AF levels of PFAS than controls, and the adjusted odds ratio (OR) was 0.410 (95% CI 0.174, 0.967; p = 0.042; FDR q value = 0.437) for perfluorooctane sulfonate (PFOS). The principal component, including PFAS congeners, copper, iron, and estrogenic activity, was significantly inversely associated with ASD risk (adjusted OR = 0.100; 95% CI 0.016, 0.630; p = 0.014; FDR q value = 0.098).Testosterone level in AF weakly associated with ASD risk (adjusted OR = 1.002; 95% CI 1.000, 1.004; p = 0.05). However, after multiple comparison correction, the association was not significant (FDR q value = 0.437). No significant associations between AF-induced receptor transactivities and ASD risk were observed. The adjusted OR was 2.176 (95%CI 0.115, 41.153) for the ratio of the combined androgenic activity to combined estrogenic activity. Conclusions: The presence of PFAS and heavy metals in AF indicates that they can cross the placenta. The inverse association between levels of PFAS congeners in AF and ASD risk might relate to the weak estrogenic activities and anti-androgenic activities of PFAS.The observed tendency of positive association between the ratio of combined androgenic effect to the combined estrogenic effect and ASD risk needs further studies to explore whether EDCs together with endogenous hormones play a role in the development of ASD. En ligne : https://dx.doi.org/10.1186/s13229-018-0253-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=389
in Molecular Autism > 10 (2019) . - 1 p.[article] Autism spectrum disorders, endocrine disrupting compounds, and heavy metals in amniotic fluid: a case-control study [Texte imprimé et/ou numérique] / M. LONG, Auteur ; M. GHISARI, Auteur ; L. KJELDSEN, Auteur ; M. WIELSOE, Auteur ; B. NORGAARD-PEDERSEN, Auteur ; E. L. MORTENSEN, Auteur ; Morsi W. ABDALLAH, Auteur ; E. C. BONEFELD-JORGENSEN, Auteur . - 1 p.
Langues : Anglais (eng)
in Molecular Autism > 10 (2019) . - 1 p.
Mots-clés : Adolescent Adult Amniotic Fluid/*chemistry Animals Autism Spectrum Disorder/epidemiology/*etiology CHO Cells Case-Control Studies Child Cricetinae Cricetulus Endocrine Disruptors/*analysis/toxicity Female Humans Infant, Newborn Male Metals, Heavy/*analysis/toxicity Middle Aged *Amniotic fluid *Autism *Endocrine disrupting compounds *Receptor activity Newborn Screening Biobank and the Danish Data Protection Agency (Record No. 2009-41-3173) as well as the Central Denmark Region Ethics Committee on Health Research (Record No. M-20090066). Since all data were obtained retrospectively in an anonymized manner, there was no need to obtain consent from any of the participants.Not applicableThe authors declare that they have no competing interests.Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations. Index. décimale : PER Périodiques Résumé : Background: Evidence has indicated that some non-inherited factors such as exposure to environmental pollutants are associated with neurodevelopment disorders like autism spectrum disorder (ASD). Studies report that endocrine disrupting compounds (EDCs), including polychlorinated biphenyls, organochlorine pesticides, perfluoroalkyl substances (PFAS), and some metals, have adverse effects on the fetal neurodevelopment. The aim of this study was to measure the amniotic fluid (AF) levels of EDCs and metals as well as the receptor transactivities induced by AF and investigate the possible link between prenatal exposure to EDCs and heavy metals and ASD risk. Methods: In this case-control study, we included AF samples of 75 ASD cases and 135 frequency-matched controls and measured the levels of the endogenous sex hormones, PFAS, and elements including heavy metals. The combined effect of endogenous hormones and EDCs on the receptor of estrogen (ER), androgen (AR), aryl hydrocarbon (AhR), and thyroid hormone-like activity were also determined and expressed as receptor ligand equivalents. We assessed the associations of AF levels of chemicals, sex hormones, and receptor activities with ASD risk using unconditional logistical regression analyses. To control for multiple comparisons, the false discovery rate (FDR) was used and q values less than 0.25 were designated as statistical significance. Results: PFAS and metals were detectable in AF samples. The ASD cases had significantly lower AF levels of PFAS than controls, and the adjusted odds ratio (OR) was 0.410 (95% CI 0.174, 0.967; p = 0.042; FDR q value = 0.437) for perfluorooctane sulfonate (PFOS). The principal component, including PFAS congeners, copper, iron, and estrogenic activity, was significantly inversely associated with ASD risk (adjusted OR = 0.100; 95% CI 0.016, 0.630; p = 0.014; FDR q value = 0.098).Testosterone level in AF weakly associated with ASD risk (adjusted OR = 1.002; 95% CI 1.000, 1.004; p = 0.05). However, after multiple comparison correction, the association was not significant (FDR q value = 0.437). No significant associations between AF-induced receptor transactivities and ASD risk were observed. The adjusted OR was 2.176 (95%CI 0.115, 41.153) for the ratio of the combined androgenic activity to combined estrogenic activity. Conclusions: The presence of PFAS and heavy metals in AF indicates that they can cross the placenta. The inverse association between levels of PFAS congeners in AF and ASD risk might relate to the weak estrogenic activities and anti-androgenic activities of PFAS.The observed tendency of positive association between the ratio of combined androgenic effect to the combined estrogenic effect and ASD risk needs further studies to explore whether EDCs together with endogenous hormones play a role in the development of ASD. En ligne : https://dx.doi.org/10.1186/s13229-018-0253-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=389 Latent trajectories of adaptive behaviour in infants at high and low familial risk for autism spectrum disorder / G. BUSSU in Molecular Autism, 10 (2019)
[article]
Titre : Latent trajectories of adaptive behaviour in infants at high and low familial risk for autism spectrum disorder Type de document : Texte imprimé et/ou numérique Auteurs : G. BUSSU, Auteur ; E. J. H. JONES, Auteur ; Tony CHARMAN, Auteur ; M. H. JOHNSON, Auteur ; Jan K. BUITELAAR, Auteur Article en page(s) : 13 p. Langues : Anglais (eng) Mots-clés : Adaptive behaviour Autism Infant siblings Subgroups Trajectories Central NREC (approval codes 06/MRE02/73, 08/H0718/76), and one or both parents gave informed consent to participate in the study.Not applicable.JKB has been a consultant to/member of, an advisory board of, and/or a speaker for Janssen Cilag BV, Eli Lilly, Lundbeck, Shire, Roche, Novartis, Medice, and Servier. He is neither an employee nor a stock shareholder of any of these companies. TC has received research grant support from the Medical Research Council (UK), the National Institute of Health Research, Horizon 2020 and the Innovative Medicines Initiative (both European Commission), MQ, Autistica, FP7 (European Commission), the Charles Hawkins Fund, and the Waterloo Foundation. He has served as a consultant to F. Hoffmann-La Roche, Ltd. He has received royalties from Sage Publications and Guilford Publications. The present work is unrelated to these relationships. The other authors declare that they have no competing interests.Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations. Index. décimale : PER Périodiques Résumé : Background: Autism spectrum disorder (ASD) is characterised by persisting difficulties in everyday functioning. Adaptive behaviour is heterogeneous across individuals with ASD, and it is not clear to what extent early development of adaptive behaviour relates to ASD outcome in toddlerhood. This study aims to identify subgroups of infants based on early development of adaptive skills and investigate their association with later ASD outcome. Methods: Adaptive behaviour was assessed on infants at high (n = 166) and low (n = 74) familial risk for ASD between 8 and 36 months using the Vineland Adaptive Behavior Scales (VABS-II). The four domains of VABS-II were modelled in parallel using growth mixture modelling to identify distinct classes of infants based on adaptive behaviour. Then, we associated class membership with clinical outcome and ASD symptoms at 36 months and longitudinal measures of cognitive development. Results: We observed three classes characterised by decreasing trajectories below age-appropriate norms (8.3%), stable trajectories around age-appropriate norms (73.8%), and increasing trajectories reaching average scores by age 2 (17.9%). Infants with declining adaptive behaviour had a higher risk (odds ratio (OR) = 4.40; confidence interval (CI) 1.90; 12.98) for ASD and higher parent-reported symptoms in the social, communication, and repetitive behaviour domains at 36 months. Furthermore, there was a discrepancy between adaptive and cognitive functioning as the class with improving adaptive skills showed stable cognitive development around average scores. Conclusions: Findings confirm the heterogeneity of trajectories of adaptive functioning in infancy, with a higher risk for ASD in toddlerhood linked to a plateau in the development of adaptive functioning after the first year of life. En ligne : https://dx.doi.org/10.1186/s13229-019-0264-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=389
in Molecular Autism > 10 (2019) . - 13 p.[article] Latent trajectories of adaptive behaviour in infants at high and low familial risk for autism spectrum disorder [Texte imprimé et/ou numérique] / G. BUSSU, Auteur ; E. J. H. JONES, Auteur ; Tony CHARMAN, Auteur ; M. H. JOHNSON, Auteur ; Jan K. BUITELAAR, Auteur . - 13 p.
Langues : Anglais (eng)
in Molecular Autism > 10 (2019) . - 13 p.
Mots-clés : Adaptive behaviour Autism Infant siblings Subgroups Trajectories Central NREC (approval codes 06/MRE02/73, 08/H0718/76), and one or both parents gave informed consent to participate in the study.Not applicable.JKB has been a consultant to/member of, an advisory board of, and/or a speaker for Janssen Cilag BV, Eli Lilly, Lundbeck, Shire, Roche, Novartis, Medice, and Servier. He is neither an employee nor a stock shareholder of any of these companies. TC has received research grant support from the Medical Research Council (UK), the National Institute of Health Research, Horizon 2020 and the Innovative Medicines Initiative (both European Commission), MQ, Autistica, FP7 (European Commission), the Charles Hawkins Fund, and the Waterloo Foundation. He has served as a consultant to F. Hoffmann-La Roche, Ltd. He has received royalties from Sage Publications and Guilford Publications. The present work is unrelated to these relationships. The other authors declare that they have no competing interests.Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations. Index. décimale : PER Périodiques Résumé : Background: Autism spectrum disorder (ASD) is characterised by persisting difficulties in everyday functioning. Adaptive behaviour is heterogeneous across individuals with ASD, and it is not clear to what extent early development of adaptive behaviour relates to ASD outcome in toddlerhood. This study aims to identify subgroups of infants based on early development of adaptive skills and investigate their association with later ASD outcome. Methods: Adaptive behaviour was assessed on infants at high (n = 166) and low (n = 74) familial risk for ASD between 8 and 36 months using the Vineland Adaptive Behavior Scales (VABS-II). The four domains of VABS-II were modelled in parallel using growth mixture modelling to identify distinct classes of infants based on adaptive behaviour. Then, we associated class membership with clinical outcome and ASD symptoms at 36 months and longitudinal measures of cognitive development. Results: We observed three classes characterised by decreasing trajectories below age-appropriate norms (8.3%), stable trajectories around age-appropriate norms (73.8%), and increasing trajectories reaching average scores by age 2 (17.9%). Infants with declining adaptive behaviour had a higher risk (odds ratio (OR) = 4.40; confidence interval (CI) 1.90; 12.98) for ASD and higher parent-reported symptoms in the social, communication, and repetitive behaviour domains at 36 months. Furthermore, there was a discrepancy between adaptive and cognitive functioning as the class with improving adaptive skills showed stable cognitive development around average scores. Conclusions: Findings confirm the heterogeneity of trajectories of adaptive functioning in infancy, with a higher risk for ASD in toddlerhood linked to a plateau in the development of adaptive functioning after the first year of life. En ligne : https://dx.doi.org/10.1186/s13229-019-0264-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=389 Selection bias on intellectual ability in autism research: a cross-sectional review and meta-analysis / G. RUSSELL in Molecular Autism, 10 (2019)
[article]
Titre : Selection bias on intellectual ability in autism research: a cross-sectional review and meta-analysis Type de document : Texte imprimé et/ou numérique Auteurs : G. RUSSELL, Auteur ; W. MANDY, Auteur ; D. ELLIOTT, Auteur ; R. WHITE, Auteur ; T. PITTWOOD, Auteur ; T. FORD, Auteur Article en page(s) : 9 p. Langues : Anglais (eng) Mots-clés : *Autism *Autism spectrum disorder *Intellectual disability *Nosology *Selection bias interests.Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations. Index. décimale : PER Périodiques Résumé : Background: Current global estimates suggest the proportion of the population with autism spectrum disorder (ASD) who have intellectual disability (ID) is approximately 50%. Our objective was to ascertain the existence of selection bias due to under-inclusion of populations with ID across all fields of autism research. A sub-goal was to evaluate inconsistencies in reporting of findings. Methods: This review covers all original research published in 2016 in autism-specific journals with an impact factor greater than 3. Across 301 included studies, 100,245 participants had ASD. A random effects meta-analysis was used to estimate the proportion of participants without ID. Selection bias was defined as where more than 75% of participants did not have ID. Results: Meta-analysis estimated 94% of all participants identified as being on the autism spectrum in the studies reviewed did not have ID (95% CI 0.91-0.97). Eight out of ten studies demonstrated selection bias against participants with ID. The reporting of participant characteristics was generally poor: information about participants' intellectual ability was absent in 38% of studies (n = 114). Where there was selection bias on ID, only 31% of studies mentioned lack of generalisability as a limitation. Conclusions: We found selection bias against ID throughout all fields of autism research. We recommend transparent reporting about ID and strategies for inclusion for this much marginalised group. En ligne : https://dx.doi.org/10.1186/s13229-019-0260-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=389
in Molecular Autism > 10 (2019) . - 9 p.[article] Selection bias on intellectual ability in autism research: a cross-sectional review and meta-analysis [Texte imprimé et/ou numérique] / G. RUSSELL, Auteur ; W. MANDY, Auteur ; D. ELLIOTT, Auteur ; R. WHITE, Auteur ; T. PITTWOOD, Auteur ; T. FORD, Auteur . - 9 p.
Langues : Anglais (eng)
in Molecular Autism > 10 (2019) . - 9 p.
Mots-clés : *Autism *Autism spectrum disorder *Intellectual disability *Nosology *Selection bias interests.Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations. Index. décimale : PER Périodiques Résumé : Background: Current global estimates suggest the proportion of the population with autism spectrum disorder (ASD) who have intellectual disability (ID) is approximately 50%. Our objective was to ascertain the existence of selection bias due to under-inclusion of populations with ID across all fields of autism research. A sub-goal was to evaluate inconsistencies in reporting of findings. Methods: This review covers all original research published in 2016 in autism-specific journals with an impact factor greater than 3. Across 301 included studies, 100,245 participants had ASD. A random effects meta-analysis was used to estimate the proportion of participants without ID. Selection bias was defined as where more than 75% of participants did not have ID. Results: Meta-analysis estimated 94% of all participants identified as being on the autism spectrum in the studies reviewed did not have ID (95% CI 0.91-0.97). Eight out of ten studies demonstrated selection bias against participants with ID. The reporting of participant characteristics was generally poor: information about participants' intellectual ability was absent in 38% of studies (n = 114). Where there was selection bias on ID, only 31% of studies mentioned lack of generalisability as a limitation. Conclusions: We found selection bias against ID throughout all fields of autism research. We recommend transparent reporting about ID and strategies for inclusion for this much marginalised group. En ligne : https://dx.doi.org/10.1186/s13229-019-0260-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=389 Haploinsufficiency of autism causative gene Tbr1 impairs olfactory discrimination and neuronal activation of the olfactory system in mice / T. N. HUANG in Molecular Autism, 10 (2019)
[article]
Titre : Haploinsufficiency of autism causative gene Tbr1 impairs olfactory discrimination and neuronal activation of the olfactory system in mice Type de document : Texte imprimé et/ou numérique Auteurs : T. N. HUANG, Auteur ; T. L. YEN, Auteur ; L. R. QIU, Auteur ; H. C. CHUANG, Auteur ; J. P. LERCH, Auteur ; Y. P. HSUEH, Auteur Article en page(s) : 5 p. Langues : Anglais (eng) Mots-clés : *Autism spectrum disorders *c-fos *D-cycloserine *Neuronal activation *Olfactory bulb *Olfactory discrimination *T-brain-1 interests.Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations. Index. décimale : PER Périodiques Résumé : Background: Autism spectrum disorders (ASD) exhibit two clusters of core symptoms, i.e., social and communication impairment, and repetitive behaviors and sensory abnormalities. Our previous study demonstrated that TBR1, a causative gene of ASD, controls axonal projection and neuronal activation of amygdala and regulates social interaction and vocal communication in a mouse model. Behavioral defects caused by Tbr1 haploinsufficiency can be ameliorated by increasing neural activity via D-cycloserine treatment, an N-methyl-D-aspartate receptor (NMDAR) coagonist. In this report, we investigate the role of TBR1 in regulating olfaction and test whether D-cycloserine can also improve olfactory defects in Tbr1 mutant mice. Methods: We used Tbr1 (+/-) mice as a model to investigate the function of TBR1 in olfactory sensation and discrimination of non-social odors. We employed a behavioral assay to characterize the olfactory defects of Tbr1 (+/-) mice. Magnetic resonance imaging (MRI) and histological analysis were applied to characterize anatomical features. Immunostaining was performed to further analyze differences in expression of TBR1 subfamily members (namely TBR1, TBR2, and TBX21), interneuron populations, and dendritic abnormalities in olfactory bulbs. Finally, C-FOS staining was used to monitor neuronal activation of the olfactory system upon odor stimulation. Results: Tbr1 (+/-) mice exhibited smaller olfactory bulbs and anterior commissures, reduced interneuron populations, and an abnormal dendritic morphology of mitral cells in the olfactory bulbs. Tbr1 haploinsufficiency specifically impaired olfactory discrimination but not olfactory sensation. Neuronal activation upon odorant stimulation was reduced in the glomerular layer of Tbr1 (+/-) olfactory bulbs. Furthermore, although the sizes of piriform and perirhinal cortices were not affected by Tbr1 deficiency, neuronal activation was reduced in these two cortical regions in response to odorant stimulation. These results suggest an impairment of neuronal activation in olfactory bulbs and defective connectivity from olfactory bulbs to the upper olfactory system in Tbr1 (+/-) mice. Systemic administration of D-cycloserine, an NMDAR co-agonist, ameliorated olfactory discrimination in Tbr1 (+/-) mice, suggesting that increased neuronal activity has a beneficial effect on Tbr1 deficiency. Conclusions: Tbr1 regulates neural circuits and activity in the olfactory system to control olfaction. Tbr1 (+/-) mice can serve as a suitable model for revealing how an autism causative gene controls neuronal circuits, neural activity, and autism-related behaviors. En ligne : https://dx.doi.org/10.1186/s13229-019-0257-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=389
in Molecular Autism > 10 (2019) . - 5 p.[article] Haploinsufficiency of autism causative gene Tbr1 impairs olfactory discrimination and neuronal activation of the olfactory system in mice [Texte imprimé et/ou numérique] / T. N. HUANG, Auteur ; T. L. YEN, Auteur ; L. R. QIU, Auteur ; H. C. CHUANG, Auteur ; J. P. LERCH, Auteur ; Y. P. HSUEH, Auteur . - 5 p.
Langues : Anglais (eng)
in Molecular Autism > 10 (2019) . - 5 p.
Mots-clés : *Autism spectrum disorders *c-fos *D-cycloserine *Neuronal activation *Olfactory bulb *Olfactory discrimination *T-brain-1 interests.Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations. Index. décimale : PER Périodiques Résumé : Background: Autism spectrum disorders (ASD) exhibit two clusters of core symptoms, i.e., social and communication impairment, and repetitive behaviors and sensory abnormalities. Our previous study demonstrated that TBR1, a causative gene of ASD, controls axonal projection and neuronal activation of amygdala and regulates social interaction and vocal communication in a mouse model. Behavioral defects caused by Tbr1 haploinsufficiency can be ameliorated by increasing neural activity via D-cycloserine treatment, an N-methyl-D-aspartate receptor (NMDAR) coagonist. In this report, we investigate the role of TBR1 in regulating olfaction and test whether D-cycloserine can also improve olfactory defects in Tbr1 mutant mice. Methods: We used Tbr1 (+/-) mice as a model to investigate the function of TBR1 in olfactory sensation and discrimination of non-social odors. We employed a behavioral assay to characterize the olfactory defects of Tbr1 (+/-) mice. Magnetic resonance imaging (MRI) and histological analysis were applied to characterize anatomical features. Immunostaining was performed to further analyze differences in expression of TBR1 subfamily members (namely TBR1, TBR2, and TBX21), interneuron populations, and dendritic abnormalities in olfactory bulbs. Finally, C-FOS staining was used to monitor neuronal activation of the olfactory system upon odor stimulation. Results: Tbr1 (+/-) mice exhibited smaller olfactory bulbs and anterior commissures, reduced interneuron populations, and an abnormal dendritic morphology of mitral cells in the olfactory bulbs. Tbr1 haploinsufficiency specifically impaired olfactory discrimination but not olfactory sensation. Neuronal activation upon odorant stimulation was reduced in the glomerular layer of Tbr1 (+/-) olfactory bulbs. Furthermore, although the sizes of piriform and perirhinal cortices were not affected by Tbr1 deficiency, neuronal activation was reduced in these two cortical regions in response to odorant stimulation. These results suggest an impairment of neuronal activation in olfactory bulbs and defective connectivity from olfactory bulbs to the upper olfactory system in Tbr1 (+/-) mice. Systemic administration of D-cycloserine, an NMDAR co-agonist, ameliorated olfactory discrimination in Tbr1 (+/-) mice, suggesting that increased neuronal activity has a beneficial effect on Tbr1 deficiency. Conclusions: Tbr1 regulates neural circuits and activity in the olfactory system to control olfaction. Tbr1 (+/-) mice can serve as a suitable model for revealing how an autism causative gene controls neuronal circuits, neural activity, and autism-related behaviors. En ligne : https://dx.doi.org/10.1186/s13229-019-0257-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=389