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Brain function distinguishes female carriers and non-carriers of familial risk for autism / Adam T. EGGEBRECHT in Molecular Autism, 11 (2020)
[article]
Titre : Brain function distinguishes female carriers and non-carriers of familial risk for autism Type de document : Texte imprimé et/ou numérique Auteurs : Adam T. EGGEBRECHT, Auteur ; Ally DWORETSKY, Auteur ; Zoe HAWKS, Auteur ; Rebecca COALSON, Auteur ; Babatunde ADEYEMO, Auteur ; Savannah DAVIS, Auteur ; Daniel GRAY, Auteur ; Alana MCMICHAEL, Auteur ; Steven E. PETERSEN, Auteur ; John N. CONSTANTINO, Auteur ; John R. Jr PRUETT, Auteur Année de publication : 2020 Article en page(s) : 82 p. Langues : Anglais (eng) Mots-clés : Biological motion Endophenotype Familial risk Sex ratio Silent transmission Responsiveness Scale-2 (SRS-2), a quantitative measure of autistic traits used in this study—no royalties were generated from the implementation of the SRS-2 in this program of research. Index. décimale : PER Périodiques Résumé : BACKGROUND: Autism spectrum disorder (ASD) is characterized by high population-level heritability and a three-to-one male-to-female ratio that occurs independent of sex linkage. Prior research in a mixed-sex pediatric sample identified neural signatures of familial risk elicited by passive viewing of point light motion displays, suggesting the possibility that both resilience and risk of autism might be associated with brain responses to biological motion. To confirm a relationship between these signatures and inherited risk of autism, we tested them in families enriched for genetic loading through undiagnosed ("carrier") females. METHODS: Using functional magnetic resonance imaging, we examined brain responses to passive viewing of point light displays-depicting biological versus non-biological motion-in a sample of undiagnosed adult females enriched for inherited susceptibility to ASD on the basis of affectation in their respective family pedigrees. Brain responses in carrier females were compared to responses in age-, SRS-, and IQ-matched non-carrier-females-i.e., females unrelated to individuals with ASD. We conducted a hypothesis-driven analysis focused on previously published regions of interest as well as exploratory, brain-wide analyses designed to characterize more fully the rich responses to this paradigm. RESULTS: We observed robust responses to biological motion. Notwithstanding, the 12 regions implicated by prior research did not exhibit the hypothesized interaction between group (carriers vs. controls) and point light displays (biological vs. non-biological motion). Exploratory, brain-wide analyses identified this interaction in three novel regions. Post hoc analyses additionally revealed significant variations in the time course of brain activation in 20 regions spanning occipital and temporal cortex, indicating group differences in response to point light displays (irrespective of the nature of motion) for exploration in future studies. LIMITATIONS: We were unable to successfully eye-track all participants, which prevented us from being able to control for potential differences in eye gaze position. CONCLUSIONS: These methods confirmed pronounced neural signatures that differentiate brain responses to biological and scrambled motion. Our sample of undiagnosed females enriched for family genetic loading enabled discovery of numerous contrasts between carriers and non-carriers of risk of ASD that may index variations in visual attention and motion processing related to genetic susceptibility and inform our understanding of mechanisms incurred by inherited liability for ASD. En ligne : http://dx.doi.org/10.1186/s13229-020-00381-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=433
in Molecular Autism > 11 (2020) . - 82 p.[article] Brain function distinguishes female carriers and non-carriers of familial risk for autism [Texte imprimé et/ou numérique] / Adam T. EGGEBRECHT, Auteur ; Ally DWORETSKY, Auteur ; Zoe HAWKS, Auteur ; Rebecca COALSON, Auteur ; Babatunde ADEYEMO, Auteur ; Savannah DAVIS, Auteur ; Daniel GRAY, Auteur ; Alana MCMICHAEL, Auteur ; Steven E. PETERSEN, Auteur ; John N. CONSTANTINO, Auteur ; John R. Jr PRUETT, Auteur . - 2020 . - 82 p.
Langues : Anglais (eng)
in Molecular Autism > 11 (2020) . - 82 p.
Mots-clés : Biological motion Endophenotype Familial risk Sex ratio Silent transmission Responsiveness Scale-2 (SRS-2), a quantitative measure of autistic traits used in this study—no royalties were generated from the implementation of the SRS-2 in this program of research. Index. décimale : PER Périodiques Résumé : BACKGROUND: Autism spectrum disorder (ASD) is characterized by high population-level heritability and a three-to-one male-to-female ratio that occurs independent of sex linkage. Prior research in a mixed-sex pediatric sample identified neural signatures of familial risk elicited by passive viewing of point light motion displays, suggesting the possibility that both resilience and risk of autism might be associated with brain responses to biological motion. To confirm a relationship between these signatures and inherited risk of autism, we tested them in families enriched for genetic loading through undiagnosed ("carrier") females. METHODS: Using functional magnetic resonance imaging, we examined brain responses to passive viewing of point light displays-depicting biological versus non-biological motion-in a sample of undiagnosed adult females enriched for inherited susceptibility to ASD on the basis of affectation in their respective family pedigrees. Brain responses in carrier females were compared to responses in age-, SRS-, and IQ-matched non-carrier-females-i.e., females unrelated to individuals with ASD. We conducted a hypothesis-driven analysis focused on previously published regions of interest as well as exploratory, brain-wide analyses designed to characterize more fully the rich responses to this paradigm. RESULTS: We observed robust responses to biological motion. Notwithstanding, the 12 regions implicated by prior research did not exhibit the hypothesized interaction between group (carriers vs. controls) and point light displays (biological vs. non-biological motion). Exploratory, brain-wide analyses identified this interaction in three novel regions. Post hoc analyses additionally revealed significant variations in the time course of brain activation in 20 regions spanning occipital and temporal cortex, indicating group differences in response to point light displays (irrespective of the nature of motion) for exploration in future studies. LIMITATIONS: We were unable to successfully eye-track all participants, which prevented us from being able to control for potential differences in eye gaze position. CONCLUSIONS: These methods confirmed pronounced neural signatures that differentiate brain responses to biological and scrambled motion. Our sample of undiagnosed females enriched for family genetic loading enabled discovery of numerous contrasts between carriers and non-carriers of risk of ASD that may index variations in visual attention and motion processing related to genetic susceptibility and inform our understanding of mechanisms incurred by inherited liability for ASD. En ligne : http://dx.doi.org/10.1186/s13229-020-00381-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=433 Retrospective Descriptive Study of Cerebral Palsy in Nepal / Ritesh THAPA in Journal of Autism and Developmental Disorders, 46-7 (July 2016)
[article]
Titre : Retrospective Descriptive Study of Cerebral Palsy in Nepal Type de document : Texte imprimé et/ou numérique Auteurs : Ritesh THAPA, Auteur Article en page(s) : p.2285-2291 Langues : Anglais (eng) Mots-clés : Cerebral palsy (CP) Demography CP types Sex ratio Ethnicity Age distribution Index. décimale : PER Périodiques Résumé : There is very little data pertaining to cerebral palsy (CP) from Nepal. In this retrospective study it was observed that dyskinetic CP was seen in 29 % and the sex ratio of males to females was two in the study population of children with CP. Both of these are much higher than data from developed countries. Hence, further randomized cross-sectional community based study is recommended to enquire into this pattern. Data regarding early identification was encouraging as majority of the cases (56 %) were diagnosed before 4 years of age. There is a stark necessity of early screening and rehabilitation program with provision for follow-up for the affected children, which must also be accessible to the disadvantaged and marginalized groups in Nepal. En ligne : http://dx.doi.org/10.1007/s10803-016-2757-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=290
in Journal of Autism and Developmental Disorders > 46-7 (July 2016) . - p.2285-2291[article] Retrospective Descriptive Study of Cerebral Palsy in Nepal [Texte imprimé et/ou numérique] / Ritesh THAPA, Auteur . - p.2285-2291.
Langues : Anglais (eng)
in Journal of Autism and Developmental Disorders > 46-7 (July 2016) . - p.2285-2291
Mots-clés : Cerebral palsy (CP) Demography CP types Sex ratio Ethnicity Age distribution Index. décimale : PER Périodiques Résumé : There is very little data pertaining to cerebral palsy (CP) from Nepal. In this retrospective study it was observed that dyskinetic CP was seen in 29 % and the sex ratio of males to females was two in the study population of children with CP. Both of these are much higher than data from developed countries. Hence, further randomized cross-sectional community based study is recommended to enquire into this pattern. Data regarding early identification was encouraging as majority of the cases (56 %) were diagnosed before 4 years of age. There is a stark necessity of early screening and rehabilitation program with provision for follow-up for the affected children, which must also be accessible to the disadvantaged and marginalized groups in Nepal. En ligne : http://dx.doi.org/10.1007/s10803-016-2757-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=290 The role of gender in the perception of autism symptom severity and future behavioral development / P. GEELHAND in Molecular Autism, 10 (2019)
[article]
Titre : The role of gender in the perception of autism symptom severity and future behavioral development Type de document : Texte imprimé et/ou numérique Auteurs : P. GEELHAND, Auteur ; P. BERNARD, Auteur ; O. KLEIN, Auteur ; B. VAN TIEL, Auteur ; M. KISSINE, Auteur Article en page(s) : 16 p. Langues : Anglais (eng) Mots-clés : Adolescence Caregiver Concern Gender bias Sex ratio Symptom severity Index. décimale : PER Périodiques Résumé : Background: Increasing attention is being paid to the higher prevalence of boys with Autism Spectrum Disorder (ASD) and to the implications of this ratio discrepancy on our understanding of autism in girls. One recent avenue of research has focused on caregiver's concern, suggesting that autism might present differently in boys and girls. One unexplored factor related to concerns on child development is whether socio-cultural factors such as gender-related expectations influence the evaluation of symptom severity and predictions about future behavioral development. Methods: The latter concerns were the focus of the present study and were explored by investigating laypeople's judgment of the severity of autism symptoms using an online parent role-playing paradigm, in which participants were asked to rate vignettes depicting the behaviors of a child in different everyday life scenarios. The child's gender and the severity of ASD symptoms were manipulated to examine the effect of gender on the perception of symptom severity. Results: Results suggest that there are no gender differences in perceived symptom severity and associated degree of concern for 5-year-old boys and girls but that there is a gender difference in perceived future atypicality at 15 years old, with boys being rated as more likely to be perceived as atypical by their peers at that age than girls. Conclusions: Investigating parent's cognition about their child's future behavioral development can provide additional information regarding delayed diagnosis of autistic girls. En ligne : http://dx.doi.org/10.1186/s13229-019-0266-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=398
in Molecular Autism > 10 (2019) . - 16 p.[article] The role of gender in the perception of autism symptom severity and future behavioral development [Texte imprimé et/ou numérique] / P. GEELHAND, Auteur ; P. BERNARD, Auteur ; O. KLEIN, Auteur ; B. VAN TIEL, Auteur ; M. KISSINE, Auteur . - 16 p.
Langues : Anglais (eng)
in Molecular Autism > 10 (2019) . - 16 p.
Mots-clés : Adolescence Caregiver Concern Gender bias Sex ratio Symptom severity Index. décimale : PER Périodiques Résumé : Background: Increasing attention is being paid to the higher prevalence of boys with Autism Spectrum Disorder (ASD) and to the implications of this ratio discrepancy on our understanding of autism in girls. One recent avenue of research has focused on caregiver's concern, suggesting that autism might present differently in boys and girls. One unexplored factor related to concerns on child development is whether socio-cultural factors such as gender-related expectations influence the evaluation of symptom severity and predictions about future behavioral development. Methods: The latter concerns were the focus of the present study and were explored by investigating laypeople's judgment of the severity of autism symptoms using an online parent role-playing paradigm, in which participants were asked to rate vignettes depicting the behaviors of a child in different everyday life scenarios. The child's gender and the severity of ASD symptoms were manipulated to examine the effect of gender on the perception of symptom severity. Results: Results suggest that there are no gender differences in perceived symptom severity and associated degree of concern for 5-year-old boys and girls but that there is a gender difference in perceived future atypicality at 15 years old, with boys being rated as more likely to be perceived as atypical by their peers at that age than girls. Conclusions: Investigating parent's cognition about their child's future behavioral development can provide additional information regarding delayed diagnosis of autistic girls. En ligne : http://dx.doi.org/10.1186/s13229-019-0266-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=398 Autism spectrum disorder prevalence and associated sociodemographic factors in the school population: EPINED study / Paula MORALES-HIDALGO in Autism, 25-7 (October 2021)
[article]
Titre : Autism spectrum disorder prevalence and associated sociodemographic factors in the school population: EPINED study Type de document : Texte imprimé et/ou numérique Auteurs : Paula MORALES-HIDALGO, Auteur ; N. VOLTAS MORESO, Auteur ; Josefa CANALS SANS, Auteur Article en page(s) : p.1999-2011 Langues : Anglais (eng) Mots-clés : Autism Spectrum Disorder/epidemiology Child Female Humans Parents Population Surveillance Prevalence Schools autism spectrum disorder preschool-aged children prevalence school-aged children sex ratio sociodemographic factors Index. décimale : PER Périodiques Résumé : An increase in the prevalence of autism spectrum disorder has been reported around the world over the past decade. However, the prevalence data for southern Europe seem to be lower than international reports and notable methodological differences have been reported among studies. The objective of the Neurodevelopmental Disorders Epidemiological Research Project was to estimate the prevalence of autism spectrum disorder in a representative school sample of the province of Tarragona, Spain. The study included a screening procedure through parents (N?=?3727) and teachers (N?=?6894), and an individual assessment of children at risk and a comparison group (N?=?781). The overall estimated prevalence in our sample was 1.53%, being significantly higher than the 0.83% previously registered diagnoses. A total of 3.31% of the children presented subclinical characteristics of autism spectrum disorder. Girls showed a significantly lower estimated prevalence in all the conditions. Severity profiles were distributed as 46% mild, 47% moderate and 7% severe. Psychological support (65%), educational support (65%) and language therapy (51%) were given to children with autism spectrum disorder. Pharmacological treatment was only found among school-aged children (37.5%). Public schools provided more educational supports (72%) than private schools (36%). The heterogeneity of autism spectrum disorder makes it difficult to determine specific associated sociodemographic factors. The results confirmed a high prevalence of autism spectrum disorder in the province, suggesting a current under-diagnosis in public health services. In view of the results, it is important to promote early diagnosis and intervention, especially in particular groups such as girls, children with intellectual disabilities and children from immigrant families. En ligne : http://dx.doi.org/10.1177/13623613211007717 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=451
in Autism > 25-7 (October 2021) . - p.1999-2011[article] Autism spectrum disorder prevalence and associated sociodemographic factors in the school population: EPINED study [Texte imprimé et/ou numérique] / Paula MORALES-HIDALGO, Auteur ; N. VOLTAS MORESO, Auteur ; Josefa CANALS SANS, Auteur . - p.1999-2011.
Langues : Anglais (eng)
in Autism > 25-7 (October 2021) . - p.1999-2011
Mots-clés : Autism Spectrum Disorder/epidemiology Child Female Humans Parents Population Surveillance Prevalence Schools autism spectrum disorder preschool-aged children prevalence school-aged children sex ratio sociodemographic factors Index. décimale : PER Périodiques Résumé : An increase in the prevalence of autism spectrum disorder has been reported around the world over the past decade. However, the prevalence data for southern Europe seem to be lower than international reports and notable methodological differences have been reported among studies. The objective of the Neurodevelopmental Disorders Epidemiological Research Project was to estimate the prevalence of autism spectrum disorder in a representative school sample of the province of Tarragona, Spain. The study included a screening procedure through parents (N?=?3727) and teachers (N?=?6894), and an individual assessment of children at risk and a comparison group (N?=?781). The overall estimated prevalence in our sample was 1.53%, being significantly higher than the 0.83% previously registered diagnoses. A total of 3.31% of the children presented subclinical characteristics of autism spectrum disorder. Girls showed a significantly lower estimated prevalence in all the conditions. Severity profiles were distributed as 46% mild, 47% moderate and 7% severe. Psychological support (65%), educational support (65%) and language therapy (51%) were given to children with autism spectrum disorder. Pharmacological treatment was only found among school-aged children (37.5%). Public schools provided more educational supports (72%) than private schools (36%). The heterogeneity of autism spectrum disorder makes it difficult to determine specific associated sociodemographic factors. The results confirmed a high prevalence of autism spectrum disorder in the province, suggesting a current under-diagnosis in public health services. In view of the results, it is important to promote early diagnosis and intervention, especially in particular groups such as girls, children with intellectual disabilities and children from immigrant families. En ligne : http://dx.doi.org/10.1177/13623613211007717 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=451 Autism spectrum disorder prevalence and associated sociodemographic factors in the school population: EPINED study / Paula MORALES-HIDALGO in Autism, 26-7 (October 2022)
[article]
Titre : Autism spectrum disorder prevalence and associated sociodemographic factors in the school population: EPINED study Type de document : Texte imprimé et/ou numérique Auteurs : Paula MORALES-HIDALGO, Auteur ; Nùria VOLTAS MORESO, Auteur ; Josefa CANALS SANS, Auteur Article en page(s) : p.1999-2011 Langues : Anglais (eng) Mots-clés : Autism Spectrum Disorder/epidemiology Child Female Humans Parents Population Surveillance Prevalence Schools autism spectrum disorder preschool-aged children school-aged children sex ratio sociodemographic factors Index. décimale : PER Périodiques Résumé : An increase in the prevalence of autism spectrum disorder has been reported around the world over the past decade. However, the prevalence data for southern Europe seem to be lower than international reports and notable methodological differences have been reported among studies. The objective of the Neurodevelopmental Disorders Epidemiological Research Project was to estimate the prevalence of autism spectrum disorder in a representative school sample of the province of Tarragona, Spain. The study included a screening procedure through parents (N=3727) and teachers (N=6894), and an individual assessment of children at risk and a comparison group (N=781). The overall estimated prevalence in our sample was 1.53%, being significantly higher than the 0.83% previously registered diagnoses. A total of 3.31% of the children presented subclinical characteristics of autism spectrum disorder. Girls showed a significantly lower estimated prevalence in all the conditions. Severity profiles were distributed as 46% mild, 47% moderate and 7% severe. Psychological support (65%), educational support (65%) and language therapy (51%) were given to children with autism spectrum disorder. Pharmacological treatment was only found among school-aged children (37.5%). Public schools provided more educational supports (72%) than private schools (36%). The heterogeneity of autism spectrum disorder makes it difficult to determine specific associated sociodemographic factors. The results confirmed a high prevalence of autism spectrum disorder in the province, suggesting a current under-diagnosis in public health services. In view of the results, it is important to promote early diagnosis and intervention, especially in particular groups such as girls, children with intellectual disabilities and children from immigrant families. En ligne : http://dx.doi.org/10.1177/13623613211007717 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=484
in Autism > 26-7 (October 2022) . - p.1999-2011[article] Autism spectrum disorder prevalence and associated sociodemographic factors in the school population: EPINED study [Texte imprimé et/ou numérique] / Paula MORALES-HIDALGO, Auteur ; Nùria VOLTAS MORESO, Auteur ; Josefa CANALS SANS, Auteur . - p.1999-2011.
Langues : Anglais (eng)
in Autism > 26-7 (October 2022) . - p.1999-2011
Mots-clés : Autism Spectrum Disorder/epidemiology Child Female Humans Parents Population Surveillance Prevalence Schools autism spectrum disorder preschool-aged children school-aged children sex ratio sociodemographic factors Index. décimale : PER Périodiques Résumé : An increase in the prevalence of autism spectrum disorder has been reported around the world over the past decade. However, the prevalence data for southern Europe seem to be lower than international reports and notable methodological differences have been reported among studies. The objective of the Neurodevelopmental Disorders Epidemiological Research Project was to estimate the prevalence of autism spectrum disorder in a representative school sample of the province of Tarragona, Spain. The study included a screening procedure through parents (N=3727) and teachers (N=6894), and an individual assessment of children at risk and a comparison group (N=781). The overall estimated prevalence in our sample was 1.53%, being significantly higher than the 0.83% previously registered diagnoses. A total of 3.31% of the children presented subclinical characteristics of autism spectrum disorder. Girls showed a significantly lower estimated prevalence in all the conditions. Severity profiles were distributed as 46% mild, 47% moderate and 7% severe. Psychological support (65%), educational support (65%) and language therapy (51%) were given to children with autism spectrum disorder. Pharmacological treatment was only found among school-aged children (37.5%). Public schools provided more educational supports (72%) than private schools (36%). The heterogeneity of autism spectrum disorder makes it difficult to determine specific associated sociodemographic factors. The results confirmed a high prevalence of autism spectrum disorder in the province, suggesting a current under-diagnosis in public health services. In view of the results, it is important to promote early diagnosis and intervention, especially in particular groups such as girls, children with intellectual disabilities and children from immigrant families. En ligne : http://dx.doi.org/10.1177/13623613211007717 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=484 Epidemiological surveys of ASD: advances and remaining challenges / E. FOMBONNE in Journal of Autism and Developmental Disorders, 51-12 (December 2021)
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