Association between rare, genetic variants linked to autism and ultrasonography fetal anomalies in children with autism spectrum disorder / Ohad REGEV in Journal of Neurodevelopmental Disorders, 16 (2024)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 16 (2024) Titre : Association between rare, genetic variants linked to autism and ultrasonography fetal anomalies in children with autism spectrum disorder Type de document : texte imprimé Auteurs : Ohad REGEV, Auteur ; Apurba SHIL, Auteur ; Tal BRONSHTEIN, Auteur ; Amnon HADAR, Auteur ; Gal MEIRI, Auteur ; Dikla ZIGDON, Auteur ; Analya MICHAELOVSKI, Auteur ; Reli HERSHKOVITZ, Auteur ; Idan MENASHE, Auteur Langues : Anglais (eng) Mots-clés : Humans  Autism Spectrum Disorder/genetics/diagnostic imaging  Female  Male  Ultrasonography, Prenatal  Child  Exome Sequencing  Pregnancy  Cross-Sectional Studies  Child, Preschool  Genetic Variation  Genetic Predisposition to Disease  Autism spectrum disorder  Congenital anomalies  Fetal development  Genetic mutations  Prenatal ultrasound  Ultrasonography fetal anomalies  Whole-exome sequencing Index. décimale : PER Périodiques Résumé : BACKGROUND: Recent evidence suggests that certain fetal anomalies detected upon prenatal ultrasound screenings are associated with autism spectrum disorder (ASD). In this cross-sectional study, we aimed to identify genetic variants associated with fetal ultrasound anomalies (UFAs) in children with ASD. METHODS: The study included all children with ASD who are registered in the database of the Azrieli National Center of Autism and Neurodevelopment and for whom both prenatal ultrasound and whole exome sequencing (WES) data were available. We applied our in-house integrative bioinformatics pipeline, AutScore, to these WES data to prioritize rare, gene-disrupting variants (GDVs) probably contributing to ASD susceptibily. Univariate statistics and multivariable regression were used to assess the associations between UFAs and GDVs identified in these children. RESULTS: The study sample comprised 126 children, of whom 43 (34.1%) had at least one UFA detected in the prenatal ultrasound scan. A total of 87 candidate ASD genetic variants were detected in 60 children, with 24 (40%) children carrying multiple variants. Children with UFAs were more likely to have loss-of-function (LoF) mutations (aOR = 2.55, 95%CI: 1.13-5.80). This association was particularly noticeable when children with structural anomalies or children with UFAs in their head and brain scans were compared to children without UFAs (any mutation: aOR = 8.28, 95%CI: 2.29-30.01; LoF: aOR = 5.72, 95%CI: 2.08-15.71 and any mutation: aOR = 6.39, 95%CI: 1.34-30.47; LoF: aOR = 4.50, 95%CI: 1.32-15.35, respectively). GDVs associated with UFAs were enriched in genes highly expressed across all tissues (aOR = 2.76, 95%CI: 1.14-6.68). There was a weak, but significant, correlation between the number of mutations and the number of abnormalities detected in the same children (r = 0.21, P = 0.016). CONCLUSIONS: The results provide valuable insights into the potential genetic basis of prenatal organogenesis abnormalities associated with ASD and shed light on the complex interplay between genetic factors and fetal development. En ligne : https://dx.doi.org/10.1186/s11689-024-09573-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576 [article] Association between rare, genetic variants linked to autism and ultrasonography fetal anomalies in children with autism spectrum disorder [texte imprimé] / Ohad REGEV, Auteur ; Apurba SHIL, Auteur ; Tal BRONSHTEIN, Auteur ; Amnon HADAR, Auteur ; Gal MEIRI, Auteur ; Dikla ZIGDON, Auteur ; Analya MICHAELOVSKI, Auteur ; Reli HERSHKOVITZ, Auteur ; Idan MENASHE, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 16 (2024) Mots-clés : Humans  Autism Spectrum Disorder/genetics/diagnostic imaging  Female  Male  Ultrasonography, Prenatal  Child  Exome Sequencing  Pregnancy  Cross-Sectional Studies  Child, Preschool  Genetic Variation  Genetic Predisposition to Disease  Autism spectrum disorder  Congenital anomalies  Fetal development  Genetic mutations  Prenatal ultrasound  Ultrasonography fetal anomalies  Whole-exome sequencing Index. décimale : PER Périodiques Résumé : BACKGROUND: Recent evidence suggests that certain fetal anomalies detected upon prenatal ultrasound screenings are associated with autism spectrum disorder (ASD). In this cross-sectional study, we aimed to identify genetic variants associated with fetal ultrasound anomalies (UFAs) in children with ASD. METHODS: The study included all children with ASD who are registered in the database of the Azrieli National Center of Autism and Neurodevelopment and for whom both prenatal ultrasound and whole exome sequencing (WES) data were available. We applied our in-house integrative bioinformatics pipeline, AutScore, to these WES data to prioritize rare, gene-disrupting variants (GDVs) probably contributing to ASD susceptibily. Univariate statistics and multivariable regression were used to assess the associations between UFAs and GDVs identified in these children. RESULTS: The study sample comprised 126 children, of whom 43 (34.1%) had at least one UFA detected in the prenatal ultrasound scan. A total of 87 candidate ASD genetic variants were detected in 60 children, with 24 (40%) children carrying multiple variants. Children with UFAs were more likely to have loss-of-function (LoF) mutations (aOR = 2.55, 95%CI: 1.13-5.80). This association was particularly noticeable when children with structural anomalies or children with UFAs in their head and brain scans were compared to children without UFAs (any mutation: aOR = 8.28, 95%CI: 2.29-30.01; LoF: aOR = 5.72, 95%CI: 2.08-15.71 and any mutation: aOR = 6.39, 95%CI: 1.34-30.47; LoF: aOR = 4.50, 95%CI: 1.32-15.35, respectively). GDVs associated with UFAs were enriched in genes highly expressed across all tissues (aOR = 2.76, 95%CI: 1.14-6.68). There was a weak, but significant, correlation between the number of mutations and the number of abnormalities detected in the same children (r = 0.21, P = 0.016). CONCLUSIONS: The results provide valuable insights into the potential genetic basis of prenatal organogenesis abnormalities associated with ASD and shed light on the complex interplay between genetic factors and fetal development. En ligne : https://dx.doi.org/10.1186/s11689-024-09573-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576

Breastfeeding patterns in infants are associated with a later diagnosis of autism Spectrum disorder / Rewaa BALAUM ; Einav ALHOZYEL ; Gal MEIRI ; Dikla ZIGDON ; Analya MICHAELOVSKI ; Orly KERUB ; Idan MENASHE in Autism Research, 17-8 (August 2024)  

Public ISBD [article]  inAutism Research > 17-8 (August 2024) . - p.1696-1704 Titre : Breastfeeding patterns in infants are associated with a later diagnosis of autism Spectrum disorder Type de document : texte imprimé Auteurs : Rewaa BALAUM, Auteur ; Einav ALHOZYEL, Auteur ; Gal MEIRI, Auteur ; Dikla ZIGDON, Auteur ; Analya MICHAELOVSKI, Auteur ; Orly KERUB, Auteur ; Idan MENASHE, Auteur Article en page(s) : p.1696-1704 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Abstract Breastfeeding is associated with medical and developmental benefits. This study aimed to assess associations between nutritional patterns in the first year of life and the likelihood of autism spectrum disorder (ASD). 270 children diagnosed with ASD (cases) and 500 neurotypical children (controls) matched to cases by sex, ethnicity, and birth date (+ 3 months) were included in this retrospective case-control study. Both groups were ascertained from children born between 2014 and 2017 whose development/nutrition were monitored at mother-child health clinics in southern Israel. Conditional logistic regression was used to determine the independent association of nutritional patterns with ASD while adjusting for socio-demographic and clinical characteristics. Both exclusive and partial breastfeeding modes were associated with decreased odds of ASD diagnosis (aOR = 0.221, 95%CI = 0.136-0.360; aOR = 0.494, 95%CI = 0.328-0.743, respectively). A breastfeeding duration of >12 months was associated with lower ASD odds (aOR = 0.418, 95%CI = 0.204-0.855), while the introduction of solids after 6 months of age was associated with higher ASD odds than the introduction of solids at 6 months (aOR = 2.455, 95%CI = 1.116-4.201). These findings suggest that a longer period of exclusive breastfeeding is associated with a subsequent reduced likelihood of ASD diagnosis, thus reiterating the importance of proper post-natal nutrition for infant neurodevelopment. En ligne : https://doi.org/10.1002/aur.3211 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=533 [article] Breastfeeding patterns in infants are associated with a later diagnosis of autism Spectrum disorder [texte imprimé] / Rewaa BALAUM, Auteur ; Einav ALHOZYEL, Auteur ; Gal MEIRI, Auteur ; Dikla ZIGDON, Auteur ; Analya MICHAELOVSKI, Auteur ; Orly KERUB, Auteur ; Idan MENASHE, Auteur . - p.1696-1704. Langues : Anglais (eng) in Autism Research > 17-8 (August 2024) . - p.1696-1704 Index. décimale : PER Périodiques Résumé : Abstract Breastfeeding is associated with medical and developmental benefits. This study aimed to assess associations between nutritional patterns in the first year of life and the likelihood of autism spectrum disorder (ASD). 270 children diagnosed with ASD (cases) and 500 neurotypical children (controls) matched to cases by sex, ethnicity, and birth date (+ 3 months) were included in this retrospective case-control study. Both groups were ascertained from children born between 2014 and 2017 whose development/nutrition were monitored at mother-child health clinics in southern Israel. Conditional logistic regression was used to determine the independent association of nutritional patterns with ASD while adjusting for socio-demographic and clinical characteristics. Both exclusive and partial breastfeeding modes were associated with decreased odds of ASD diagnosis (aOR = 0.221, 95%CI = 0.136-0.360; aOR = 0.494, 95%CI = 0.328-0.743, respectively). A breastfeeding duration of >12 months was associated with lower ASD odds (aOR = 0.418, 95%CI = 0.204-0.855), while the introduction of solids after 6 months of age was associated with higher ASD odds than the introduction of solids at 6 months (aOR = 2.455, 95%CI = 1.116-4.201). These findings suggest that a longer period of exclusive breastfeeding is associated with a subsequent reduced likelihood of ASD diagnosis, thus reiterating the importance of proper post-natal nutrition for infant neurodevelopment. En ligne : https://doi.org/10.1002/aur.3211 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=533

Feasibility and initial outcomes of the social ABCs parent-mediated intervention for autistic toddlers in Israel: A pilot single-arm study / Tanya NITZAN in Research in Autism, 133 (May 2026)  

Public ISBD [article]  inResearch in Autism > 133 (May 2026) . - p.202906 Titre : Feasibility and initial outcomes of the social ABCs parent-mediated intervention for autistic toddlers in Israel: A pilot single-arm study Type de document : texte imprimé Auteurs : Tanya NITZAN, Auteur ; Tamar Matz VAISMAN, Auteur ; Tamar DAVID, Auteur ; Michal ILAN, Auteur ; Michal FAROY, Auteur ; Analya MICHAELOVSKI, Auteur ; Dikla ZIGDON, Auteur ; Gal MEIRI, Auteur ; Ilan DINSTEIN, Auteur ; Judah KOLLER, Auteur Article en page(s) : p.202906 Langues : Anglais (eng) Mots-clés : Autism  Parent-mediated intervention  Pilot feasibility  Early intervention  PRT  NDBI  Social ABCs Index. décimale : PER Périodiques Résumé : The Social ABCs is a parent-mediated Naturalistic Developmental Behavioral Intervention (NDBI) that promotes early verbal communication and affect sharing emphasizing child-led learning within natural routines. Here we conducted a six-week pilot single-arm study of the Social ABCs program with 17 autistic toddlers (19–39 months) and their parents in Israel, employing pre- and post-intervention assessments including language, social communication, and parenting stress measures. Results demonstrated significant gains in expressive and receptive vocabulary, improved social communication reduced social withdrawal, and enhanced parent-child interaction quality, with high parental satisfaction and engagement. No significant changes were observed in autism symptom severity or developmental scores. These findings suggest that the Social ABCs is a feasible, promising early intervention for autistic toddlers in Israel. Larger controlled trials are needed to confirm efficacy and assess long-term impact. En ligne : https://doi.org/10.1016/j.reia.2026.202906 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=585 [article] Feasibility and initial outcomes of the social ABCs parent-mediated intervention for autistic toddlers in Israel: A pilot single-arm study [texte imprimé] / Tanya NITZAN, Auteur ; Tamar Matz VAISMAN, Auteur ; Tamar DAVID, Auteur ; Michal ILAN, Auteur ; Michal FAROY, Auteur ; Analya MICHAELOVSKI, Auteur ; Dikla ZIGDON, Auteur ; Gal MEIRI, Auteur ; Ilan DINSTEIN, Auteur ; Judah KOLLER, Auteur . - p.202906. Langues : Anglais (eng) in Research in Autism > 133 (May 2026) . - p.202906 Mots-clés : Autism  Parent-mediated intervention  Pilot feasibility  Early intervention  PRT  NDBI  Social ABCs Index. décimale : PER Périodiques Résumé : The Social ABCs is a parent-mediated Naturalistic Developmental Behavioral Intervention (NDBI) that promotes early verbal communication and affect sharing emphasizing child-led learning within natural routines. Here we conducted a six-week pilot single-arm study of the Social ABCs program with 17 autistic toddlers (19–39 months) and their parents in Israel, employing pre- and post-intervention assessments including language, social communication, and parenting stress measures. Results demonstrated significant gains in expressive and receptive vocabulary, improved social communication reduced social withdrawal, and enhanced parent-child interaction quality, with high parental satisfaction and engagement. No significant changes were observed in autism symptom severity or developmental scores. These findings suggest that the Social ABCs is a feasible, promising early intervention for autistic toddlers in Israel. Larger controlled trials are needed to confirm efficacy and assess long-term impact. En ligne : https://doi.org/10.1016/j.reia.2026.202906 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=585

Head Growth Trajectories During the First Year of Life and Risk of Autism Spectrum Disorder / Rewaa BALAUM in Autism Research, 19-2 (February 2026)  

Public ISBD [article]  inAutism Research > 19-2 (February 2026) . - e70172 Titre : Head Growth Trajectories During the First Year of Life and Risk of Autism Spectrum Disorder Type de document : texte imprimé Auteurs : Rewaa BALAUM, Auteur ; Leena ELBEDOUR, Auteur ; Einav ALHOZYEL, Auteur ; Gal MEIRI, Auteur ; Dikla ZIGDON, Auteur ; Analya MICHAELOVSKI, Auteur ; Orly KERUB, Auteur ; Idan MENASHE, Auteur Article en page(s) : e70172 Langues : Anglais (eng) Mots-clés : autism spectrum disorder  growth trajectories  head circumference  height  macrocephaly  microcephaly Index. décimale : PER Périodiques Résumé : ABSTRACT Atypical infant head circumference (HC)?including increased rates of macrocephaly and microcephaly?has been linked to autism spectrum disorder (ASD). However, specific head growth trajectories associated with ASD remain poorly defined. This retrospective case?control study aimed to delineate these trajectories and examine their relationship to height. The study sample included 262 children diagnosed with ASD and 560 matched controls. Growth measures at 1, 2, 4, 6, 9, and 12?months of age were obtained from health clinics in southern Israel. The sample was classified into seven clusters based on HC patterns across these six time points, and associations with ASD were estimated using conditional logistic regression. Results demonstrated significant correlations between HC and height throughout the study period (Pearson correlation r?=?0.44?0.55, p? En ligne : https://doi.org/10.1002/aur.70172 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=582 [article] Head Growth Trajectories During the First Year of Life and Risk of Autism Spectrum Disorder [texte imprimé] / Rewaa BALAUM, Auteur ; Leena ELBEDOUR, Auteur ; Einav ALHOZYEL, Auteur ; Gal MEIRI, Auteur ; Dikla ZIGDON, Auteur ; Analya MICHAELOVSKI, Auteur ; Orly KERUB, Auteur ; Idan MENASHE, Auteur . - e70172. Langues : Anglais (eng) in Autism Research > 19-2 (February 2026) . - e70172 Mots-clés : autism spectrum disorder  growth trajectories  head circumference  height  macrocephaly  microcephaly Index. décimale : PER Périodiques Résumé : ABSTRACT Atypical infant head circumference (HC)?including increased rates of macrocephaly and microcephaly?has been linked to autism spectrum disorder (ASD). However, specific head growth trajectories associated with ASD remain poorly defined. This retrospective case?control study aimed to delineate these trajectories and examine their relationship to height. The study sample included 262 children diagnosed with ASD and 560 matched controls. Growth measures at 1, 2, 4, 6, 9, and 12?months of age were obtained from health clinics in southern Israel. The sample was classified into seven clusters based on HC patterns across these six time points, and associations with ASD were estimated using conditional logistic regression. Results demonstrated significant correlations between HC and height throughout the study period (Pearson correlation r?=?0.44?0.55, p? En ligne : https://doi.org/10.1002/aur.70172 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=582

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