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Faire une suggestionEffects of a postnatal Atrx conditional knockout in neurons on autism-like behaviours in male and female mice / Nicole MARTIN-KENNY in Journal of Neurodevelopmental Disorders, 12 (2020)
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Titre : Effects of a postnatal Atrx conditional knockout in neurons on autism-like behaviours in male and female mice Type de document : texte imprimé Auteurs : Nicole MARTIN-KENNY, Auteur ; Nathalie G. BÉRUBÉ, Auteur Langues : Anglais (eng) Mots-clés : Animals Autistic Disorder/genetics Chromatin Assembly and Disassembly Female Male X-Linked Intellectual Disability/genetics Mice Mice, Knockout Mutation Neurons/metabolism Postpartum Period X-linked Nuclear Protein alpha-Thalassemia/genetics Atrx Autism spectrum disorder Cre/loxP system Genetically engineered mice Repetitive behaviours Social behaviours Startle response Index. décimale : PER Périodiques Résumé : BACKGROUND: Alpha-thalassemia/mental retardation, X-linked, or ATRX, is an autism susceptibility gene that encodes a chromatin remodeler. Mutations of ATRX result in the ATR-X intellectual disability syndrome and have been identified in autism spectrum disorder (ASD) patients. The mechanisms by which ATRX mutations lead to autism and autistic-like behaviours are not yet known. To address this question, we generated mice with postnatal Atrx inactivation in excitatory neurons of the forebrain and performed a battery of behavioural assays that assess autistic-like behaviours. METHODS: Male and female mice with a postnatal conditional ablation of ATRX were generated using the Cre/lox system under the control of the αCaMKII gene promoter. These mice were tested in a battery of behavioural tests that assess autistic-like features. We utilized paradigms that measure social behaviour, repetitive, and stereotyped behaviours, as well as sensory gating. Statistics were calculated by two-way repeated measures ANOVA with Sidak's multiple comparison test or unpaired Student's t tests as indicated. RESULTS: The behaviour tests revealed no significant differences between Atrx-cKO and control mice. We identified sexually dimorphic changes in odor habituation and discrimination; however, these changes did not correlate with social deficits. CONCLUSION: The postnatal knockout of Atrx in forebrain excitatory neurons does not lead to autism-related behaviours in male or female mice. En ligne : https://dx.doi.org/10.1186/s11689-020-09319-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=573
in Journal of Neurodevelopmental Disorders > 12 (2020)[article] Effects of a postnatal Atrx conditional knockout in neurons on autism-like behaviours in male and female mice [texte imprimé] / Nicole MARTIN-KENNY, Auteur ; Nathalie G. BÉRUBÉ, Auteur.
Langues : Anglais (eng)
in Journal of Neurodevelopmental Disorders > 12 (2020)
Mots-clés : Animals Autistic Disorder/genetics Chromatin Assembly and Disassembly Female Male X-Linked Intellectual Disability/genetics Mice Mice, Knockout Mutation Neurons/metabolism Postpartum Period X-linked Nuclear Protein alpha-Thalassemia/genetics Atrx Autism spectrum disorder Cre/loxP system Genetically engineered mice Repetitive behaviours Social behaviours Startle response Index. décimale : PER Périodiques Résumé : BACKGROUND: Alpha-thalassemia/mental retardation, X-linked, or ATRX, is an autism susceptibility gene that encodes a chromatin remodeler. Mutations of ATRX result in the ATR-X intellectual disability syndrome and have been identified in autism spectrum disorder (ASD) patients. The mechanisms by which ATRX mutations lead to autism and autistic-like behaviours are not yet known. To address this question, we generated mice with postnatal Atrx inactivation in excitatory neurons of the forebrain and performed a battery of behavioural assays that assess autistic-like behaviours. METHODS: Male and female mice with a postnatal conditional ablation of ATRX were generated using the Cre/lox system under the control of the αCaMKII gene promoter. These mice were tested in a battery of behavioural tests that assess autistic-like features. We utilized paradigms that measure social behaviour, repetitive, and stereotyped behaviours, as well as sensory gating. Statistics were calculated by two-way repeated measures ANOVA with Sidak's multiple comparison test or unpaired Student's t tests as indicated. RESULTS: The behaviour tests revealed no significant differences between Atrx-cKO and control mice. We identified sexually dimorphic changes in odor habituation and discrimination; however, these changes did not correlate with social deficits. CONCLUSION: The postnatal knockout of Atrx in forebrain excitatory neurons does not lead to autism-related behaviours in male or female mice. En ligne : https://dx.doi.org/10.1186/s11689-020-09319-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=573 Elevated levels of cortisol, brain-derived neurotropic factor and tissue plasminogen activator in male children with autism spectrum disorder / Hasan BOZKURT in Autism Research, 14-10 (October 2021)
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Titre : Elevated levels of cortisol, brain-derived neurotropic factor and tissue plasminogen activator in male children with autism spectrum disorder Type de document : texte imprimé Auteurs : Hasan BOZKURT, Auteur ; Åž. ÅžIMÅžEK, Auteur ; S. ÅžAHIN, Auteur Article en page(s) : p.2078-2084 Langues : Anglais (eng) Mots-clés : Adolescent Autism Spectrum Disorder Biomarkers Brain Brain-Derived Neurotrophic Factor Child Child, Preschool Humans Hydrocortisone Male Tissue Plasminogen Activator autism brain-derived neurotrophic factor cortisol Index. décimale : PER Périodiques Résumé : Several studies demonstrated biological effects of cortisol, brain-derived neurotrophic factor (BDNF) and tissue plasminogen activator (tPA) on human metabolism and central nervous system. Our study investigated the serum levels of tPA along with BDNF and cortisol in children with autism spectrum disorder (ASD). Thirty three male children with ASD ranging in age from 2 to 15 years were selected for the study group and 27 age-matched healthy male children were selected for the control group. The ASD severity was determined by the score on the Autism Behavior Checklist (ABC). The mean cortisol levels for the study group and the control group were 79.1 ± 30.2 ng/ml and 60.0 ± 25.1 ng/ml, respectively. The mean BDNF levels for the study group and the control group were 5.9 ± 2.8 ng/ml and 3.7 ± 1.8 ng/ml, respectively. The mean tPA levels for the study group and the control group were 32.9 ± 18.5 ng/ml and 25.5 ± 15.1 ng/ml, respectively. Cortisol, BDNF and tPA levels were significantly higher in the study group compared to the control group (p < 0.001). There was no statistically significant effect in terms of age, ABC total and subscale scores on serum cortisol, BDNF and tPA levels in the study group (p > 0.05). It may be suggested that elevations may indicate a role in the pathogenesis of ASD or it may be the case that ASD may alter the levels or pathways of these metabolic factors. LAY SUMMARY: The underlying mechanism or a specific metabolic target relevant to autism spectrum disorder (ASD) has not yet been identified. Cortisol, brain-derived neurotrophic factor (BDNF) and tissue plasminogen activator (tPA) have biological effects on neuroplasticity but little is known about the role of cortisol and tPA-BDNF pathway in ASD. In the present study focused on male children with ASD, we have found higher blood levels of cortisol, BDNF and tPA than their healthy peers. This is the first clinical study to evaluate the serum tPA levels along with BDNF and cortisol in ASD. The results suggest that several neurotrophic and other related markers should be born in mind while examining children with ASD. En ligne : http://dx.doi.org/10.1002/aur.2582 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=450
in Autism Research > 14-10 (October 2021) . - p.2078-2084[article] Elevated levels of cortisol, brain-derived neurotropic factor and tissue plasminogen activator in male children with autism spectrum disorder [texte imprimé] / Hasan BOZKURT, Auteur ; Ş. ŞIMŞEK, Auteur ; S. ŞAHIN, Auteur . - p.2078-2084.
Langues : Anglais (eng)
in Autism Research > 14-10 (October 2021) . - p.2078-2084
Mots-clés : Adolescent Autism Spectrum Disorder Biomarkers Brain Brain-Derived Neurotrophic Factor Child Child, Preschool Humans Hydrocortisone Male Tissue Plasminogen Activator autism brain-derived neurotrophic factor cortisol Index. décimale : PER Périodiques Résumé : Several studies demonstrated biological effects of cortisol, brain-derived neurotrophic factor (BDNF) and tissue plasminogen activator (tPA) on human metabolism and central nervous system. Our study investigated the serum levels of tPA along with BDNF and cortisol in children with autism spectrum disorder (ASD). Thirty three male children with ASD ranging in age from 2 to 15 years were selected for the study group and 27 age-matched healthy male children were selected for the control group. The ASD severity was determined by the score on the Autism Behavior Checklist (ABC). The mean cortisol levels for the study group and the control group were 79.1 ± 30.2 ng/ml and 60.0 ± 25.1 ng/ml, respectively. The mean BDNF levels for the study group and the control group were 5.9 ± 2.8 ng/ml and 3.7 ± 1.8 ng/ml, respectively. The mean tPA levels for the study group and the control group were 32.9 ± 18.5 ng/ml and 25.5 ± 15.1 ng/ml, respectively. Cortisol, BDNF and tPA levels were significantly higher in the study group compared to the control group (p < 0.001). There was no statistically significant effect in terms of age, ABC total and subscale scores on serum cortisol, BDNF and tPA levels in the study group (p > 0.05). It may be suggested that elevations may indicate a role in the pathogenesis of ASD or it may be the case that ASD may alter the levels or pathways of these metabolic factors. LAY SUMMARY: The underlying mechanism or a specific metabolic target relevant to autism spectrum disorder (ASD) has not yet been identified. Cortisol, brain-derived neurotrophic factor (BDNF) and tissue plasminogen activator (tPA) have biological effects on neuroplasticity but little is known about the role of cortisol and tPA-BDNF pathway in ASD. In the present study focused on male children with ASD, we have found higher blood levels of cortisol, BDNF and tPA than their healthy peers. This is the first clinical study to evaluate the serum tPA levels along with BDNF and cortisol in ASD. The results suggest that several neurotrophic and other related markers should be born in mind while examining children with ASD. En ligne : http://dx.doi.org/10.1002/aur.2582 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=450 Gazefinder as a clinical supplementary tool for discriminating between autism spectrum disorder and typical development in male adolescents and adults / Toru FUJIOKA in Molecular Autism, 7 (2016)
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Titre : Gazefinder as a clinical supplementary tool for discriminating between autism spectrum disorder and typical development in male adolescents and adults Type de document : texte imprimé Auteurs : Toru FUJIOKA, Auteur ; Keisuke INOHARA, Auteur ; Yuko OKAMOTO, Auteur ; Yasuhiro MASUYA, Auteur ; Makoto ISHITOBI, Auteur ; Daisuke N. SAITO, Auteur ; Matthias JUNG, Auteur ; Sumiyoshi ARAI, Auteur ; Yukiko MATSUMURA, Auteur ; Takashi X. FUJISAWA, Auteur ; Kosuke NARITA, Auteur ; Kota SUZUKI, Auteur ; Kenji J. TSUCHIYA, Auteur ; Norio MORI, Auteur ; Taiichi KATAYAMA, Auteur ; Makoto SATO, Auteur ; Toshio MUNESUE, Auteur ; Hidehiko OKAZAWA, Auteur ; Akemi TOMODA, Auteur ; Yuji WADA, Auteur ; Hirotaka KOSAKA, Auteur Article en page(s) : 19p. Langues : Anglais (eng) Mots-clés : Adolescent Adult Area Under Curve Autism Spectrum Disorder/diagnosis/physiopathology Case-Control Studies Discriminant Analysis Fixation, Ocular/physiology Humans Male Ocular Physiological Phenomena Photic Stimulation Psychometrics ROC Curve Social Behavior Time Factors Autism spectrum disorder Biological motion Eye-tracking Face Fixation Gaze abnormality Geometry Index. décimale : PER Périodiques Résumé : BACKGROUND: Gaze abnormality is a diagnostic criterion for autism spectrum disorder (ASD). However, few easy-to-use clinical tools exist to evaluate the unique eye-gaze patterns of ASD. Recently, we developed Gazefinder, an all-in-one eye-tracking system for early detection of ASD in toddlers. Because abnormal gaze patterns have been documented in various ASD age groups, we predicted that Gazefinder might also detect gaze abnormality in adolescents and adults. In this study, we tested whether Gazefinder could identify unique gaze patterns in adolescents and adults with ASD. METHODS: We measured the percentage of eye fixation time allocated to particular objects depicted in movies (i.e., eyes and mouth in human face movies, upright and inverted biological motion in movies that presented these stimuli simultaneously, and people and geometry in movies that presented these stimuli simultaneously) by male adolescents and adults with ASD (N = 26) and age-matched males with typical development (TD; N = 35). We compared these percentages between the two groups (ASD and TD) and with scores on the social responsiveness scale (SRS). Further, we conducted discriminant analyses to determine if fixation times allocated to particular objects could be used to discriminate between individuals with and without ASD. RESULTS: Compared with the TD group, the ASD group showed significantly less fixation time at locations of salient social information (i.e., eyes in the movie of human faces without lip movement and people in the movie of people and geometry), while there were no significant groupwise differences in the responses to movies of human faces with lip movement or biological motion. In a within-group correlation analysis, a few of the fixation-time items correlated with SRS, although most of them did not. No items significantly correlated with SRS in both ASD and TD groups. The percentage fixation times to eyes and people, which exhibited large effect sizes for the group difference, could differentiate ASD and TD with a sensitivity of 81.0% and a specificity of 80.0%. CONCLUSIONS: These findings suggest that Gazefinder is potentially a valuable and easy-to-use tool for objectively measuring unique gaze patterns and discriminating between ASD and TD in male adolescents and adults. En ligne : http://dx.doi.org/10.1186/s13229-016-0083-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=328
in Molecular Autism > 7 (2016) . - 19p.[article] Gazefinder as a clinical supplementary tool for discriminating between autism spectrum disorder and typical development in male adolescents and adults [texte imprimé] / Toru FUJIOKA, Auteur ; Keisuke INOHARA, Auteur ; Yuko OKAMOTO, Auteur ; Yasuhiro MASUYA, Auteur ; Makoto ISHITOBI, Auteur ; Daisuke N. SAITO, Auteur ; Matthias JUNG, Auteur ; Sumiyoshi ARAI, Auteur ; Yukiko MATSUMURA, Auteur ; Takashi X. FUJISAWA, Auteur ; Kosuke NARITA, Auteur ; Kota SUZUKI, Auteur ; Kenji J. TSUCHIYA, Auteur ; Norio MORI, Auteur ; Taiichi KATAYAMA, Auteur ; Makoto SATO, Auteur ; Toshio MUNESUE, Auteur ; Hidehiko OKAZAWA, Auteur ; Akemi TOMODA, Auteur ; Yuji WADA, Auteur ; Hirotaka KOSAKA, Auteur . - 19p.
Langues : Anglais (eng)
in Molecular Autism > 7 (2016) . - 19p.
Mots-clés : Adolescent Adult Area Under Curve Autism Spectrum Disorder/diagnosis/physiopathology Case-Control Studies Discriminant Analysis Fixation, Ocular/physiology Humans Male Ocular Physiological Phenomena Photic Stimulation Psychometrics ROC Curve Social Behavior Time Factors Autism spectrum disorder Biological motion Eye-tracking Face Fixation Gaze abnormality Geometry Index. décimale : PER Périodiques Résumé : BACKGROUND: Gaze abnormality is a diagnostic criterion for autism spectrum disorder (ASD). However, few easy-to-use clinical tools exist to evaluate the unique eye-gaze patterns of ASD. Recently, we developed Gazefinder, an all-in-one eye-tracking system for early detection of ASD in toddlers. Because abnormal gaze patterns have been documented in various ASD age groups, we predicted that Gazefinder might also detect gaze abnormality in adolescents and adults. In this study, we tested whether Gazefinder could identify unique gaze patterns in adolescents and adults with ASD. METHODS: We measured the percentage of eye fixation time allocated to particular objects depicted in movies (i.e., eyes and mouth in human face movies, upright and inverted biological motion in movies that presented these stimuli simultaneously, and people and geometry in movies that presented these stimuli simultaneously) by male adolescents and adults with ASD (N = 26) and age-matched males with typical development (TD; N = 35). We compared these percentages between the two groups (ASD and TD) and with scores on the social responsiveness scale (SRS). Further, we conducted discriminant analyses to determine if fixation times allocated to particular objects could be used to discriminate between individuals with and without ASD. RESULTS: Compared with the TD group, the ASD group showed significantly less fixation time at locations of salient social information (i.e., eyes in the movie of human faces without lip movement and people in the movie of people and geometry), while there were no significant groupwise differences in the responses to movies of human faces with lip movement or biological motion. In a within-group correlation analysis, a few of the fixation-time items correlated with SRS, although most of them did not. No items significantly correlated with SRS in both ASD and TD groups. The percentage fixation times to eyes and people, which exhibited large effect sizes for the group difference, could differentiate ASD and TD with a sensitivity of 81.0% and a specificity of 80.0%. CONCLUSIONS: These findings suggest that Gazefinder is potentially a valuable and easy-to-use tool for objectively measuring unique gaze patterns and discriminating between ASD and TD in male adolescents and adults. En ligne : http://dx.doi.org/10.1186/s13229-016-0083-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=328 Language and Aggressive Behaviors in Male and Female Youth with Autism Spectrum Disorder / Emily NEUHAUS in Journal of Autism and Developmental Disorders, 52-1 (January 2022)
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Titre : Language and Aggressive Behaviors in Male and Female Youth with Autism Spectrum Disorder Type de document : texte imprimé Auteurs : Emily NEUHAUS, Auteur ; Veronica Y. KANG, Auteur ; Anna KRESSE, Auteur ; Sarah CORRIGAN, Auteur ; Elizabeth H. AYLWARD, Auteur ; Raphael A. BERNIER, Auteur ; Susan Y. BOOKHEIMER, Auteur ; Mirella DAPRETTO, Auteur ; A. JACK, Auteur ; Shafali S. JESTE, Auteur ; James C. MCPARTLAND, Auteur ; John D. VAN HORN, Auteur ; Kevin A. PELPHREY, Auteur ; Sara J. WEBB, Auteur Article en page(s) : p.454-462 Langues : Anglais (eng) Mots-clés : Adolescent Aggression Autism Spectrum Disorder Child Communication Female Humans Language Male Asd Autism Externalizing behaviors Gender Sex differences Index. décimale : PER Périodiques Résumé : Aggressive behaviors are common among youth with autism spectrum disorder (ASD) and correlate with pervasive social-emotional difficulties. Communication skill is an important correlate of disruptive behavior in typical development, and clarification of links between communication and aggression in ASD may inform intervention methods. We investigate child/family factors and communication in relation to aggression among 145 individuals with ASD (65 female; ages 8-17 years). Overall, more severe aggression was associated with younger age, lower family income, and difficulties with communication skills. However, this pattern of results was driven by males, and aggression was unrelated to child or family characteristics for females. Future work should incorporate these predictors in conjunction with broader contextual factors to understand aggressive behavior in females with ASD. En ligne : http://dx.doi.org/10.1007/s10803-020-04773-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=455
in Journal of Autism and Developmental Disorders > 52-1 (January 2022) . - p.454-462[article] Language and Aggressive Behaviors in Male and Female Youth with Autism Spectrum Disorder [texte imprimé] / Emily NEUHAUS, Auteur ; Veronica Y. KANG, Auteur ; Anna KRESSE, Auteur ; Sarah CORRIGAN, Auteur ; Elizabeth H. AYLWARD, Auteur ; Raphael A. BERNIER, Auteur ; Susan Y. BOOKHEIMER, Auteur ; Mirella DAPRETTO, Auteur ; A. JACK, Auteur ; Shafali S. JESTE, Auteur ; James C. MCPARTLAND, Auteur ; John D. VAN HORN, Auteur ; Kevin A. PELPHREY, Auteur ; Sara J. WEBB, Auteur . - p.454-462.
Langues : Anglais (eng)
in Journal of Autism and Developmental Disorders > 52-1 (January 2022) . - p.454-462
Mots-clés : Adolescent Aggression Autism Spectrum Disorder Child Communication Female Humans Language Male Asd Autism Externalizing behaviors Gender Sex differences Index. décimale : PER Périodiques Résumé : Aggressive behaviors are common among youth with autism spectrum disorder (ASD) and correlate with pervasive social-emotional difficulties. Communication skill is an important correlate of disruptive behavior in typical development, and clarification of links between communication and aggression in ASD may inform intervention methods. We investigate child/family factors and communication in relation to aggression among 145 individuals with ASD (65 female; ages 8-17 years). Overall, more severe aggression was associated with younger age, lower family income, and difficulties with communication skills. However, this pattern of results was driven by males, and aggression was unrelated to child or family characteristics for females. Future work should incorporate these predictors in conjunction with broader contextual factors to understand aggressive behavior in females with ASD. En ligne : http://dx.doi.org/10.1007/s10803-020-04773-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=455 Phenotypic differences between female and male individuals with suspicion of autism spectrum disorder / Sanna STROTH in Molecular Autism, 13 (2022)
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Titre : Phenotypic differences between female and male individuals with suspicion of autism spectrum disorder Type de document : texte imprimé Auteurs : Sanna STROTH, Auteur ; Johannes TAUSCHER, Auteur ; Nicole WOLFF, Auteur ; Charlotte KÜPPER, Auteur ; Luise POUSTKA, Auteur ; Stefan ROEPKE, Auteur ; Veit ROESSNER, Auteur ; Dominik HEIDER, Auteur ; Inge KAMP-BECKER, Auteur Article en page(s) : 11 p. Langues : Anglais (eng) Mots-clés : Affect Autism Spectrum Disorder/diagnosis Autistic Disorder Female Humans Intellectual Disability/diagnosis Male Adi-r Ados Asd Diagnostics Female autism Phenotype Sex Index. décimale : PER Périodiques Résumé : BACKGROUND: Although autism spectrum disorder (ASD) is a common developmental disorder, our knowledge about a behavioral and neurobiological female phenotype is still scarce. As the conceptualization and understanding of ASD are mainly based on the investigation of male individuals, females with ASD may not be adequately identified by routine clinical diagnostics. The present machine learning approach aimed to identify diagnostic information from the Autism Diagnostic Observation Schedule (ADOS) that discriminates best between ASD and non-ASD in females and males. METHODS: Random forests (RF) were used to discover patterns of symptoms in diagnostic data from the ADOS (modules 3 and 4) in 1057 participants with ASD (18.1% female) and 1230 participants with non-ASD (17.9% % female). Predictive performances of reduced feature models were explored and compared between females and males without intellectual disabilities. RESULTS: Reduced feature models relied on considerably fewer features from the ADOS in females compared to males, while still yielding similar classification performance (e.g., sensitivity, specificity). LIMITATIONS: As in previous studies, the current sample of females with ASD is smaller than the male sample and thus, females may still be underrepresented, limiting the statistical power to detect small to moderate effects. CONCLUSION: Our results do not suggest the need for new or altered diagnostic algorithms for females with ASD. Although we identified some phenotypic differences between females and males, the existing diagnostic tools seem to sufficiently capture the core autistic features in both groups. En ligne : http://dx.doi.org/10.1186/s13229-022-00491-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=477
in Molecular Autism > 13 (2022) . - 11 p.[article] Phenotypic differences between female and male individuals with suspicion of autism spectrum disorder [texte imprimé] / Sanna STROTH, Auteur ; Johannes TAUSCHER, Auteur ; Nicole WOLFF, Auteur ; Charlotte KÜPPER, Auteur ; Luise POUSTKA, Auteur ; Stefan ROEPKE, Auteur ; Veit ROESSNER, Auteur ; Dominik HEIDER, Auteur ; Inge KAMP-BECKER, Auteur . - 11 p.
Langues : Anglais (eng)
in Molecular Autism > 13 (2022) . - 11 p.
Mots-clés : Affect Autism Spectrum Disorder/diagnosis Autistic Disorder Female Humans Intellectual Disability/diagnosis Male Adi-r Ados Asd Diagnostics Female autism Phenotype Sex Index. décimale : PER Périodiques Résumé : BACKGROUND: Although autism spectrum disorder (ASD) is a common developmental disorder, our knowledge about a behavioral and neurobiological female phenotype is still scarce. As the conceptualization and understanding of ASD are mainly based on the investigation of male individuals, females with ASD may not be adequately identified by routine clinical diagnostics. The present machine learning approach aimed to identify diagnostic information from the Autism Diagnostic Observation Schedule (ADOS) that discriminates best between ASD and non-ASD in females and males. METHODS: Random forests (RF) were used to discover patterns of symptoms in diagnostic data from the ADOS (modules 3 and 4) in 1057 participants with ASD (18.1% female) and 1230 participants with non-ASD (17.9% % female). Predictive performances of reduced feature models were explored and compared between females and males without intellectual disabilities. RESULTS: Reduced feature models relied on considerably fewer features from the ADOS in females compared to males, while still yielding similar classification performance (e.g., sensitivity, specificity). LIMITATIONS: As in previous studies, the current sample of females with ASD is smaller than the male sample and thus, females may still be underrepresented, limiting the statistical power to detect small to moderate effects. CONCLUSION: Our results do not suggest the need for new or altered diagnostic algorithms for females with ASD. Although we identified some phenotypic differences between females and males, the existing diagnostic tools seem to sufficiently capture the core autistic features in both groups. En ligne : http://dx.doi.org/10.1186/s13229-022-00491-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=477 Salivary testosterone in male and female youth with and without autism spectrum disorder: considerations of development, sex, and diagnosis / Rachael A. MUSCATELLO in Molecular Autism, 13 (2022)
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PermalinkTesting the extreme male brain hypothesis: Is autism spectrum disorder associated with a more male-typical brain? / Liza VAN EIJK in Autism Research, 14-8 (August 2021)
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PermalinkAccess to services for autistic people across Europe / Siti Nurnadhirah BINTE MOHD IKHSAN in Molecular Autism, 16 (2025)
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PermalinkAcute administration of NLX-101, a Serotonin 1A receptor agonist, improves auditory temporal processing during development in a mouse model of Fragile X Syndrome / Xin TAO in Journal of Neurodevelopmental Disorders, 17 (2025)
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PermalinkAdolescent gender diversity: sociodemographic correlates and mental health outcomes in the general population / Akhgar GHASSABIAN in Journal of Child Psychology and Psychiatry, 63-11 (November 2022)
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