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Development of the pupillary light reflex from 9 to 24 months: association with common autism spectrum disorder (ASD) genetic liability and 3-year ASD diagnosis / L. A. FISH in Journal of Child Psychology and Psychiatry, 62-11 (November 2021)
[article]
Titre : Development of the pupillary light reflex from 9 to 24 months: association with common autism spectrum disorder (ASD) genetic liability and 3-year ASD diagnosis Type de document : Texte imprimé et/ou numérique Auteurs : L. A. FISH, Auteur ; P. NYSTROM, Auteur ; T. GLIGA, Auteur ; A. GUI, Auteur ; Jannath BEGUM ALI, Auteur ; L. MASON, Auteur ; S. GARG, Auteur ; J. GREEN, Auteur ; M. H. JOHNSON, Auteur ; Tony CHARMAN, Auteur ; R. HARRISON, Auteur ; E. MEABURN, Auteur ; T. FALCK-YTTER, Auteur ; E. J. H. JONES, Auteur Article en page(s) : p.1308-1319 Langues : Anglais (eng) Mots-clés : Autism Spectrum Disorder/diagnosis/genetics Humans Infant Phenotype Reflex Autism spectrum disorder infancy neurodevelopment pupillary light reflex Index. décimale : PER Périodiques Résumé : BACKGROUND: Although autism spectrum disorder (ASD) is heritable, the mechanisms through which genes contribute to symptom emergence remain unclear. Investigating candidate intermediate phenotypes such as the pupillary light reflex (PLR) prospectively from early in development could bridge genotype and behavioural phenotype. METHODS: Using eye tracking, we longitudinally measured the PLR at 9, 14 and 24 months in a sample of infants (N = 264) enriched for a family history of ASD; 27 infants received an ASD diagnosis at 3 years. We examined the 9- to 24-month developmental trajectories of PLR constriction latency (onset; ms) and amplitude (%) and explored their relation to categorical 3-year ASD outcome, polygenic liability for ASD and dimensional 3-year social affect (SA) and repetitive/restrictive behaviour (RRB) traits. Polygenic scores for ASD (PGS(ASD) ) were calculated for 190 infants. RESULTS: While infants showed a decrease in latency between 9 and 14 months, higher PGS(ASD) was associated with a smaller decrease in latency in the first year (? = -.16, 95% CI = -0.31, -0.002); infants with later ASD showed a significantly steeper decrease in latency (a putative 'catch-up') between 14 and 24 months relative to those with other outcomes (typical: ? = .54, 95% CI = 0.08, 0.99; other: ? = .53, 95% CI = 0.02, 1.04). Latency development did not associate with later dimensional variation in ASD-related traits. In contrast, change in amplitude was not related to categorical ASD or genetics, but decreasing 9- to 14-month amplitude was associated with higher SA (? = .08, 95% CI = 0.01, 0.14) and RRB (? = .05, 95% CI = 0.004, 0.11) traits. CONCLUSIONS: These findings corroborate PLR development as possible intermediate phenotypes being linked to both genetic liability and phenotypic outcomes. Future work should incorporate alternative measures (e.g. functionally informed structural and genetic measures) to test whether distinct neural mechanisms underpin PLR alterations. En ligne : http://dx.doi.org/10.1111/jcpp.13518 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=456
in Journal of Child Psychology and Psychiatry > 62-11 (November 2021) . - p.1308-1319[article] Development of the pupillary light reflex from 9 to 24 months: association with common autism spectrum disorder (ASD) genetic liability and 3-year ASD diagnosis [Texte imprimé et/ou numérique] / L. A. FISH, Auteur ; P. NYSTROM, Auteur ; T. GLIGA, Auteur ; A. GUI, Auteur ; Jannath BEGUM ALI, Auteur ; L. MASON, Auteur ; S. GARG, Auteur ; J. GREEN, Auteur ; M. H. JOHNSON, Auteur ; Tony CHARMAN, Auteur ; R. HARRISON, Auteur ; E. MEABURN, Auteur ; T. FALCK-YTTER, Auteur ; E. J. H. JONES, Auteur . - p.1308-1319.
Langues : Anglais (eng)
in Journal of Child Psychology and Psychiatry > 62-11 (November 2021) . - p.1308-1319
Mots-clés : Autism Spectrum Disorder/diagnosis/genetics Humans Infant Phenotype Reflex Autism spectrum disorder infancy neurodevelopment pupillary light reflex Index. décimale : PER Périodiques Résumé : BACKGROUND: Although autism spectrum disorder (ASD) is heritable, the mechanisms through which genes contribute to symptom emergence remain unclear. Investigating candidate intermediate phenotypes such as the pupillary light reflex (PLR) prospectively from early in development could bridge genotype and behavioural phenotype. METHODS: Using eye tracking, we longitudinally measured the PLR at 9, 14 and 24 months in a sample of infants (N = 264) enriched for a family history of ASD; 27 infants received an ASD diagnosis at 3 years. We examined the 9- to 24-month developmental trajectories of PLR constriction latency (onset; ms) and amplitude (%) and explored their relation to categorical 3-year ASD outcome, polygenic liability for ASD and dimensional 3-year social affect (SA) and repetitive/restrictive behaviour (RRB) traits. Polygenic scores for ASD (PGS(ASD) ) were calculated for 190 infants. RESULTS: While infants showed a decrease in latency between 9 and 14 months, higher PGS(ASD) was associated with a smaller decrease in latency in the first year (? = -.16, 95% CI = -0.31, -0.002); infants with later ASD showed a significantly steeper decrease in latency (a putative 'catch-up') between 14 and 24 months relative to those with other outcomes (typical: ? = .54, 95% CI = 0.08, 0.99; other: ? = .53, 95% CI = 0.02, 1.04). Latency development did not associate with later dimensional variation in ASD-related traits. In contrast, change in amplitude was not related to categorical ASD or genetics, but decreasing 9- to 14-month amplitude was associated with higher SA (? = .08, 95% CI = 0.01, 0.14) and RRB (? = .05, 95% CI = 0.004, 0.11) traits. CONCLUSIONS: These findings corroborate PLR development as possible intermediate phenotypes being linked to both genetic liability and phenotypic outcomes. Future work should incorporate alternative measures (e.g. functionally informed structural and genetic measures) to test whether distinct neural mechanisms underpin PLR alterations. En ligne : http://dx.doi.org/10.1111/jcpp.13518 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=456 Autism Spectrum Disorder and Genetic Testing: Parents' Attitudes-Data from Turkish Sample / A. B. AYHAN in Journal of Autism and Developmental Disorders, 51-9 (September 2021)
[article]
Titre : Autism Spectrum Disorder and Genetic Testing: Parents' Attitudes-Data from Turkish Sample Type de document : Texte imprimé et/ou numérique Auteurs : A. B. AYHAN, Auteur ; U. BEYAZIT, Auteur ; ? TOPUZ, Auteur ; Z. TUNAY Ç, Auteur ; M. N. ABBAS, Auteur ; S. YILMAZ, Auteur Article en page(s) : p.3331-3340 Langues : Anglais (eng) Mots-clés : Autism Spectrum Disorder/diagnosis/genetics Child Genetic Testing Health Knowledge, Attitudes, Practice Humans Parents Autism spectrum disorder Parents’ attitudes Turkish sample Index. décimale : PER Périodiques Résumé : We aimed to examine the opinions of parents' having a child with ASD, on genetic testing, in a Turkish sample. 951 parents' attitudes towards genetic testing were included. 89.1% of the parents did not take a genetic test during pregnancy. 87.6% of the parents agreed to take a genetic test if it could explain the cause of ASDs. 93% agreed to take a genetic test, if it would help to have a better treatment in the future. 63.8% of the participants would approve the storage of their DNA samples for the future studies. 94.8% considered being informed about the purpose of taking DNA material for the early diagnosis and 84.2% considered being suggested genetic tests for early diagnosis as important. En ligne : http://dx.doi.org/10.1007/s10803-020-04798-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=453
in Journal of Autism and Developmental Disorders > 51-9 (September 2021) . - p.3331-3340[article] Autism Spectrum Disorder and Genetic Testing: Parents' Attitudes-Data from Turkish Sample [Texte imprimé et/ou numérique] / A. B. AYHAN, Auteur ; U. BEYAZIT, Auteur ; ? TOPUZ, Auteur ; Z. TUNAY Ç, Auteur ; M. N. ABBAS, Auteur ; S. YILMAZ, Auteur . - p.3331-3340.
Langues : Anglais (eng)
in Journal of Autism and Developmental Disorders > 51-9 (September 2021) . - p.3331-3340
Mots-clés : Autism Spectrum Disorder/diagnosis/genetics Child Genetic Testing Health Knowledge, Attitudes, Practice Humans Parents Autism spectrum disorder Parents’ attitudes Turkish sample Index. décimale : PER Périodiques Résumé : We aimed to examine the opinions of parents' having a child with ASD, on genetic testing, in a Turkish sample. 951 parents' attitudes towards genetic testing were included. 89.1% of the parents did not take a genetic test during pregnancy. 87.6% of the parents agreed to take a genetic test if it could explain the cause of ASDs. 93% agreed to take a genetic test, if it would help to have a better treatment in the future. 63.8% of the participants would approve the storage of their DNA samples for the future studies. 94.8% considered being informed about the purpose of taking DNA material for the early diagnosis and 84.2% considered being suggested genetic tests for early diagnosis as important. En ligne : http://dx.doi.org/10.1007/s10803-020-04798-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=453 Autism spectrum disorder symptom expression in individuals with 3q29 deletion syndrome / Rebecca M. POLLAK in Molecular Autism, 13 (2022)
[article]
Titre : Autism spectrum disorder symptom expression in individuals with 3q29 deletion syndrome Type de document : Texte imprimé et/ou numérique Auteurs : Rebecca M. POLLAK, Auteur ; Jordan E. PINCUS, Auteur ; T. Lindsey BURRELL, Auteur ; Joseph F. CUBELLS, Auteur ; Cheryl KLAIMAN, Auteur ; Melissa M. MURPHY, Auteur ; Celine A. SAULNIER, Auteur ; Elaine F. WALKER, Auteur ; Stormi PULVER. WHITE, Auteur ; Jennifer G. MULLE, Auteur Article en page(s) : 50 p. Langues : Anglais (eng) Mots-clés : Male Female Humans Autism Spectrum Disorder/diagnosis/genetics Syndrome Social Skills Surveys and Questionnaires Phenotype 3q29 deletion Adi-r Ados-2 Autism Copy number variants Developmental delay Genomic disorder Psychiatric genetics other authors report no conflicts of interest. Index. décimale : PER Périodiques Résumé : BACKGROUND: The 1.6Â Mb 3q29 deletion is associated with neurodevelopmental and neuropsychiatric phenotypes, including a 19-fold increased risk for autism spectrum disorder (ASD). Previous work by our team identified elevated social disability in this population via parent-report questionnaires. However, clinical features of ASD in this population have not been explored in detail. METHODS: Thirty-one individuals with 3q29 deletion syndrome (3q29del, 61.3% male) were evaluated using two gold-standard clinical ASD evaluations: the Autism Diagnostic Observation Schedule, Second Edition (ADOS-2), and the Autism Diagnostic Interview, Revised (ADI-R). Four matched comparators for each subject were ascertained from the National Database for Autism Research. Item-level scores on the ADOS-2 and ADI-R were compared between subjects with 3q29del and matched comparators. RESULTS: Subjects with 3q29del and no ASD (3q29del-ASD) had greater evidence of social disability compared to typically developing (TD) comparison subjects across the ADOS-2. Subjects with 3q29del and ASD (3q29del + ASD) were largely indistinguishable from non-syndromic ASD (nsASD) subjects on the ADOS-2. 3q29del + ASD performed significantly better on social communication on the ADI-R than nsASD (3q29 + ASD mean=11.36; nsASD mean=15.70; p=0.01), and this was driven by reduced deficits in nonverbal communication (3q29 + ASD mean=1.73; nsASD mean=3.63; p=0.03). 3q29del + ASD reported significantly later age at the first two-word phrase compared to nsASD (3q29del + ASD mean=43.89Â months; nsASD mean=37.86Â months; p=0.01). However, speech delay was not related to improved nonverbal communication in 3q29del + ASD. LIMITATIONS: There were not enough TD comparators with ADI-R data in NDAR to include in the present analysis. Additionally, our relatively small sample size made it difficult to assess race and ethnicity effects. CONCLUSIONS: 3q29del is associated with significant social disability, irrespective of ASD diagnosis. 3q29del + ASD have similar levels of social disability to nsASD, while 3q29del-ASD have significantly increased social disability compared to TD individuals. However, social communication is reasonably well preserved in 3q29del + ASD relative to nsASD. It is critical that verbal ability and social disability be examined separately in this population to ensure equal access to ASD and social skills evaluations and services. En ligne : http://dx.doi.org/10.1186/s13229-022-00533-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=491
in Molecular Autism > 13 (2022) . - 50 p.[article] Autism spectrum disorder symptom expression in individuals with 3q29 deletion syndrome [Texte imprimé et/ou numérique] / Rebecca M. POLLAK, Auteur ; Jordan E. PINCUS, Auteur ; T. Lindsey BURRELL, Auteur ; Joseph F. CUBELLS, Auteur ; Cheryl KLAIMAN, Auteur ; Melissa M. MURPHY, Auteur ; Celine A. SAULNIER, Auteur ; Elaine F. WALKER, Auteur ; Stormi PULVER. WHITE, Auteur ; Jennifer G. MULLE, Auteur . - 50 p.
Langues : Anglais (eng)
in Molecular Autism > 13 (2022) . - 50 p.
Mots-clés : Male Female Humans Autism Spectrum Disorder/diagnosis/genetics Syndrome Social Skills Surveys and Questionnaires Phenotype 3q29 deletion Adi-r Ados-2 Autism Copy number variants Developmental delay Genomic disorder Psychiatric genetics other authors report no conflicts of interest. Index. décimale : PER Périodiques Résumé : BACKGROUND: The 1.6Â Mb 3q29 deletion is associated with neurodevelopmental and neuropsychiatric phenotypes, including a 19-fold increased risk for autism spectrum disorder (ASD). Previous work by our team identified elevated social disability in this population via parent-report questionnaires. However, clinical features of ASD in this population have not been explored in detail. METHODS: Thirty-one individuals with 3q29 deletion syndrome (3q29del, 61.3% male) were evaluated using two gold-standard clinical ASD evaluations: the Autism Diagnostic Observation Schedule, Second Edition (ADOS-2), and the Autism Diagnostic Interview, Revised (ADI-R). Four matched comparators for each subject were ascertained from the National Database for Autism Research. Item-level scores on the ADOS-2 and ADI-R were compared between subjects with 3q29del and matched comparators. RESULTS: Subjects with 3q29del and no ASD (3q29del-ASD) had greater evidence of social disability compared to typically developing (TD) comparison subjects across the ADOS-2. Subjects with 3q29del and ASD (3q29del + ASD) were largely indistinguishable from non-syndromic ASD (nsASD) subjects on the ADOS-2. 3q29del + ASD performed significantly better on social communication on the ADI-R than nsASD (3q29 + ASD mean=11.36; nsASD mean=15.70; p=0.01), and this was driven by reduced deficits in nonverbal communication (3q29 + ASD mean=1.73; nsASD mean=3.63; p=0.03). 3q29del + ASD reported significantly later age at the first two-word phrase compared to nsASD (3q29del + ASD mean=43.89Â months; nsASD mean=37.86Â months; p=0.01). However, speech delay was not related to improved nonverbal communication in 3q29del + ASD. LIMITATIONS: There were not enough TD comparators with ADI-R data in NDAR to include in the present analysis. Additionally, our relatively small sample size made it difficult to assess race and ethnicity effects. CONCLUSIONS: 3q29del is associated with significant social disability, irrespective of ASD diagnosis. 3q29del + ASD have similar levels of social disability to nsASD, while 3q29del-ASD have significantly increased social disability compared to TD individuals. However, social communication is reasonably well preserved in 3q29del + ASD relative to nsASD. It is critical that verbal ability and social disability be examined separately in this population to ensure equal access to ASD and social skills evaluations and services. En ligne : http://dx.doi.org/10.1186/s13229-022-00533-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=491 Comprehensive Genetic Analysis of Non-syndromic Autism Spectrum Disorder in Clinical Settings / K. OHASHI in Journal of Autism and Developmental Disorders, 51-12 (December 2021)
[article]
Titre : Comprehensive Genetic Analysis of Non-syndromic Autism Spectrum Disorder in Clinical Settings Type de document : Texte imprimé et/ou numérique Auteurs : K. OHASHI, Auteur ; S. FUKUHARA, Auteur ; T. MIYACHI, Auteur ; T. ASAI, Auteur ; M. IMAEDA, Auteur ; M. GOTO, Auteur ; Y. KUROKAWA, Auteur ; T. ANZAI, Auteur ; Y. TSURUSAKI, Auteur ; N. MIYAKE, Auteur ; N. MATSUMOTO, Auteur ; T. YAMAGATA, Auteur ; S. SAITOH, Auteur Article en page(s) : p.4655-4662 Langues : Anglais (eng) Mots-clés : Autism Spectrum Disorder/diagnosis/genetics Comparative Genomic Hybridization DNA Copy Number Variations Genetic Predisposition to Disease Genetic Testing Genomics Humans Autism spectrum disorder Genetic analysis Microarray comparative genomic hybridization Whole-exome sequencing Index. décimale : PER Périodiques Résumé : Although genetic factors are involved in the etiology of autism spectrum disorder (ASD), the significance of genetic analysis in clinical settings is unclear. Forty-nine subjects diagnosed with non-syndromic ASD were analyzed by microarray comparative genomic hybridization (CGH) analysis, whole-exome sequencing (WES) analysis, and panel sequencing analysis for 52 common causative genes of ASD to detect inherited rare variants. Genetic analysis by microarray CGH and WES analyses showed conclusive results in about 10% of patients, however, many inherited variants detected by panel sequencing analysis were difficult to interpret and apply in clinical practice in the majority of patients. Further improvement of interpretation of many variants detected would be necessary for combined genetic tests to be used in clinical settings. En ligne : http://dx.doi.org/10.1007/s10803-021-04910-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=454
in Journal of Autism and Developmental Disorders > 51-12 (December 2021) . - p.4655-4662[article] Comprehensive Genetic Analysis of Non-syndromic Autism Spectrum Disorder in Clinical Settings [Texte imprimé et/ou numérique] / K. OHASHI, Auteur ; S. FUKUHARA, Auteur ; T. MIYACHI, Auteur ; T. ASAI, Auteur ; M. IMAEDA, Auteur ; M. GOTO, Auteur ; Y. KUROKAWA, Auteur ; T. ANZAI, Auteur ; Y. TSURUSAKI, Auteur ; N. MIYAKE, Auteur ; N. MATSUMOTO, Auteur ; T. YAMAGATA, Auteur ; S. SAITOH, Auteur . - p.4655-4662.
Langues : Anglais (eng)
in Journal of Autism and Developmental Disorders > 51-12 (December 2021) . - p.4655-4662
Mots-clés : Autism Spectrum Disorder/diagnosis/genetics Comparative Genomic Hybridization DNA Copy Number Variations Genetic Predisposition to Disease Genetic Testing Genomics Humans Autism spectrum disorder Genetic analysis Microarray comparative genomic hybridization Whole-exome sequencing Index. décimale : PER Périodiques Résumé : Although genetic factors are involved in the etiology of autism spectrum disorder (ASD), the significance of genetic analysis in clinical settings is unclear. Forty-nine subjects diagnosed with non-syndromic ASD were analyzed by microarray comparative genomic hybridization (CGH) analysis, whole-exome sequencing (WES) analysis, and panel sequencing analysis for 52 common causative genes of ASD to detect inherited rare variants. Genetic analysis by microarray CGH and WES analyses showed conclusive results in about 10% of patients, however, many inherited variants detected by panel sequencing analysis were difficult to interpret and apply in clinical practice in the majority of patients. Further improvement of interpretation of many variants detected would be necessary for combined genetic tests to be used in clinical settings. En ligne : http://dx.doi.org/10.1007/s10803-021-04910-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=454 Genetic Analysis of UGT1A1 Polymorphisms Using Preserved Dried Umbilical Cord for Assessing the Potential of Neonatal Jaundice as a Risk Factor for Autism Spectrum Disorder in Children / T. HORINOUCHI in Journal of Autism and Developmental Disorders, 52-2 (February 2022)
[article]
Titre : Genetic Analysis of UGT1A1 Polymorphisms Using Preserved Dried Umbilical Cord for Assessing the Potential of Neonatal Jaundice as a Risk Factor for Autism Spectrum Disorder in Children Type de document : Texte imprimé et/ou numérique Auteurs : T. HORINOUCHI, Auteur ; K. MAEYAMA, Auteur ; M. NAGAI, Auteur ; M. MIZOBUCHI, Auteur ; Y. TAKAGI, Auteur ; Y. OKADA, Auteur ; T. KATO, Auteur ; M. NISHIMURA, Auteur ; Y. KAWASAKI, Auteur ; M. YOSHIOKA, Auteur ; S. TAKADA, Auteur ; H. MATSUMOTO, Auteur ; Y. NAKAMACHI, Auteur ; J. SAEGUSA, Auteur ; S. FUKUSHIMA, Auteur ; K. FUJIOKA, Auteur ; K. TOMIOKA, Auteur ; H. NAGASE, Auteur ; K. NOZU, Auteur ; K. IIJIMA, Auteur ; N. NISHIMURA, Auteur Article en page(s) : p.483-489 Langues : Anglais (eng) Mots-clés : Autism Spectrum Disorder/diagnosis/genetics Child Female Glucuronosyltransferase/genetics Humans Infant, Newborn Jaundice, Neonatal/complications Polymorphism, Genetic Pregnancy Risk Factors Umbilical Cord Autism spectrum disorder Dried umbilical cord Neonatal jaundice Polymorphism Ugt1a1 Index. décimale : PER Périodiques Résumé : Neonatal jaundice has been suggested as a perinatal risk factor for autism spectrum disorder (ASD). We examined UGT1A1 polymorphisms to assess the potential of neonatal jaundice as a risk factor for ASD in children by using DNA extracted from preserved umbilical cord. In total, 79 children with ASD were genotyped for UGT1A1*28 (c.-41-40dup), UGT1A1*6 (c.211 G?>?A), and UGT1A1*27 (c.686 C?>?A). The allele frequency of UGT1A1*6 (OR?=?1.34, p?=?0.26) and UGT1A1*28 (OR?=?0.80, p?=?0.54) and the prevalence of UGT1A1*28/*6 diplotypes did not differ significantly from those in the control population. No UGT1A1*27 allele was detected in the subjects. ASD symptom assessment scores were not associated with UGT1A1*28/*6/*27 genotypes or UGT1A1*28/*6 diplotypes. These results suggest that neonatal jaundice is not significantly associated with ASD. En ligne : http://dx.doi.org/10.1007/s10803-021-04941-w Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=455
in Journal of Autism and Developmental Disorders > 52-2 (February 2022) . - p.483-489[article] Genetic Analysis of UGT1A1 Polymorphisms Using Preserved Dried Umbilical Cord for Assessing the Potential of Neonatal Jaundice as a Risk Factor for Autism Spectrum Disorder in Children [Texte imprimé et/ou numérique] / T. HORINOUCHI, Auteur ; K. MAEYAMA, Auteur ; M. NAGAI, Auteur ; M. MIZOBUCHI, Auteur ; Y. TAKAGI, Auteur ; Y. OKADA, Auteur ; T. KATO, Auteur ; M. NISHIMURA, Auteur ; Y. KAWASAKI, Auteur ; M. YOSHIOKA, Auteur ; S. TAKADA, Auteur ; H. MATSUMOTO, Auteur ; Y. NAKAMACHI, Auteur ; J. SAEGUSA, Auteur ; S. FUKUSHIMA, Auteur ; K. FUJIOKA, Auteur ; K. TOMIOKA, Auteur ; H. NAGASE, Auteur ; K. NOZU, Auteur ; K. IIJIMA, Auteur ; N. NISHIMURA, Auteur . - p.483-489.
Langues : Anglais (eng)
in Journal of Autism and Developmental Disorders > 52-2 (February 2022) . - p.483-489
Mots-clés : Autism Spectrum Disorder/diagnosis/genetics Child Female Glucuronosyltransferase/genetics Humans Infant, Newborn Jaundice, Neonatal/complications Polymorphism, Genetic Pregnancy Risk Factors Umbilical Cord Autism spectrum disorder Dried umbilical cord Neonatal jaundice Polymorphism Ugt1a1 Index. décimale : PER Périodiques Résumé : Neonatal jaundice has been suggested as a perinatal risk factor for autism spectrum disorder (ASD). We examined UGT1A1 polymorphisms to assess the potential of neonatal jaundice as a risk factor for ASD in children by using DNA extracted from preserved umbilical cord. In total, 79 children with ASD were genotyped for UGT1A1*28 (c.-41-40dup), UGT1A1*6 (c.211 G?>?A), and UGT1A1*27 (c.686 C?>?A). The allele frequency of UGT1A1*6 (OR?=?1.34, p?=?0.26) and UGT1A1*28 (OR?=?0.80, p?=?0.54) and the prevalence of UGT1A1*28/*6 diplotypes did not differ significantly from those in the control population. No UGT1A1*27 allele was detected in the subjects. ASD symptom assessment scores were not associated with UGT1A1*28/*6/*27 genotypes or UGT1A1*28/*6 diplotypes. These results suggest that neonatal jaundice is not significantly associated with ASD. En ligne : http://dx.doi.org/10.1007/s10803-021-04941-w Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=455 Ethical dimensions of translational developmental neuroscience research in autism / A. MANZINI in Journal of Child Psychology and Psychiatry, 62-11 (November 2021)
PermalinkPlacental methylome analysis from a prospective autism study / D. I. SCHROEDER in Molecular Autism, 7 (2016)
PermalinkGenetic Advances in Autism / A. THAPAR in Journal of Autism and Developmental Disorders, 51-12 (December 2021)
Permalink