Could a National Screening Program Reduce the Age of Diagnosis of Autism Spectrum Disorder? / Watfa AL-MAMARI in Journal of Autism and Developmental Disorders, 56-8 (August 2026)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 56-8 (August 2026) . - p.3190-3204 Titre : Could a National Screening Program Reduce the Age of Diagnosis of Autism Spectrum Disorder? Type de document : texte imprimé Auteurs : Watfa AL-MAMARI, Auteur ; Ahmed B. IDRIS, Auteur ; Hafsa AL AAMRI, Auteur ; Hanan AL KHATRI, Auteur ; Aisha AL SINANI, Auteur ; Rahil AL KHARUSI, Auteur ; Mohammed MIRGHANI, Auteur ; Muna AL-JABRI, Auteur ; Saquib JALEES, Auteur ; Sumaiya AL-HADHRAMI, Auteur ; M. ISLAM, Auteur ; Eric FOMBONNE, Auteur Article en page(s) : p.3190-3204 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : A systematic screening program for detecting autism at 18 months was progressively implemented in Oman since 2017. The primary objective of this study was to examine whether systematic use of M-CHAT-R/F screening is associated with lowering the age at ASD diagnosis, controlling for other predictors of age at ASD diagnosis. The study is based on a cross-sectional retrospective review of data extracted from electronic records of 756 children diagnosed with ASD between 1st January 2017 and 30th June 2023. Descriptive statistics and multiple linear regression models were used for data analysis. Of 756 children (mean age: 7.3 years, age range: 1.8–14 years; 77.5% males) included in this study, 98 (13%) underwent M-CHAT-R/F screening. The average age at ASD diagnosis was 60.7 months (95% CI: 58.8, 62.7 months). A significantly lower age at ASD diagnosis was observed among children who underwent M-CHAT-R/F screening compared to those who did not (39.4 vs. 63.8 months; p < 0.001). Multiple regression analysis indicates that children who were screened with M-CHAT-R/F received a diagnosis of ASD at an average age 20% earlier than children who were not screened with M-CHAT-R/F (adjOR = 0.80; 95% CI: 0.73, 0.88, p < 0.001). The population-based M-CHAT-R/F screening program appears to have reduced the average age of diagnosis of ASD among children. The findings may translate into earlier access to intervention and possibly improved long-term outcomes for children with ASD. En ligne : https://doi.org/10.1007/s10803-025-06770-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=591 [article] Could a National Screening Program Reduce the Age of Diagnosis of Autism Spectrum Disorder? [texte imprimé] / Watfa AL-MAMARI, Auteur ; Ahmed B. IDRIS, Auteur ; Hafsa AL AAMRI, Auteur ; Hanan AL KHATRI, Auteur ; Aisha AL SINANI, Auteur ; Rahil AL KHARUSI, Auteur ; Mohammed MIRGHANI, Auteur ; Muna AL-JABRI, Auteur ; Saquib JALEES, Auteur ; Sumaiya AL-HADHRAMI, Auteur ; M. ISLAM, Auteur ; Eric FOMBONNE, Auteur . - p.3190-3204. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 56-8 (August 2026) . - p.3190-3204 Index. décimale : PER Périodiques Résumé : A systematic screening program for detecting autism at 18 months was progressively implemented in Oman since 2017. The primary objective of this study was to examine whether systematic use of M-CHAT-R/F screening is associated with lowering the age at ASD diagnosis, controlling for other predictors of age at ASD diagnosis. The study is based on a cross-sectional retrospective review of data extracted from electronic records of 756 children diagnosed with ASD between 1st January 2017 and 30th June 2023. Descriptive statistics and multiple linear regression models were used for data analysis. Of 756 children (mean age: 7.3 years, age range: 1.8–14 years; 77.5% males) included in this study, 98 (13%) underwent M-CHAT-R/F screening. The average age at ASD diagnosis was 60.7 months (95% CI: 58.8, 62.7 months). A significantly lower age at ASD diagnosis was observed among children who underwent M-CHAT-R/F screening compared to those who did not (39.4 vs. 63.8 months; p < 0.001). Multiple regression analysis indicates that children who were screened with M-CHAT-R/F received a diagnosis of ASD at an average age 20% earlier than children who were not screened with M-CHAT-R/F (adjOR = 0.80; 95% CI: 0.73, 0.88, p < 0.001). The population-based M-CHAT-R/F screening program appears to have reduced the average age of diagnosis of ASD among children. The findings may translate into earlier access to intervention and possibly improved long-term outcomes for children with ASD. En ligne : https://doi.org/10.1007/s10803-025-06770-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=591

Diagnostic Yield of Chromosomal Microarray Analysis in a Cohort of Patients with Autism Spectrum Disorders from a Highly Consanguineous Population / Watfa AL-MAMARI in Journal of Autism and Developmental Disorders, 45-8 (August 2015)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 45-8 (August 2015) . - p.2323-2328 Titre : Diagnostic Yield of Chromosomal Microarray Analysis in a Cohort of Patients with Autism Spectrum Disorders from a Highly Consanguineous Population Type de document : texte imprimé Auteurs : Watfa AL-MAMARI, Auteur ; Abeer AL-SAEGH, Auteur ; Adila AL-KINDY, Auteur ; Zandre BRUWER, Auteur ; Fathiya AL-MURSHEDI, Auteur ; Khalid AL-THIHLI, Auteur Année de publication : 2015 Article en page(s) : p.2323-2328 Langues : Anglais (eng) Mots-clés : Autism  Autism spectrum disorders  Chromosomal microarray  Array-CGH  Diagnostic yield  Consanguinity Index. décimale : PER Périodiques Résumé : Autism Spectrum Disorders are a complicated group of disorders characterized with heterogeneous genetic etiologies. The genetic investigations for this group of disorders have expanded considerably over the past decade. In our study we designed a tired approach and studied the diagnostic yield of chromosomal microarray analysis on patients referred to the Genetic and Developmental Medicine clinic in Sultan Qaboos University in Oman for autism spectrum disorders in a highly consanguineous population. Copy number variants were seen in 27 % of our studied cohort of patients and it was strongly associated with dysmorphic features and congenital anomalies. En ligne : http://dx.doi.org/10.1007/s10803-015-2394-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=263 [article] Diagnostic Yield of Chromosomal Microarray Analysis in a Cohort of Patients with Autism Spectrum Disorders from a Highly Consanguineous Population [texte imprimé] / Watfa AL-MAMARI, Auteur ; Abeer AL-SAEGH, Auteur ; Adila AL-KINDY, Auteur ; Zandre BRUWER, Auteur ; Fathiya AL-MURSHEDI, Auteur ; Khalid AL-THIHLI, Auteur . - 2015 . - p.2323-2328. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 45-8 (August 2015) . - p.2323-2328 Mots-clés : Autism  Autism spectrum disorders  Chromosomal microarray  Array-CGH  Diagnostic yield  Consanguinity Index. décimale : PER Périodiques Résumé : Autism Spectrum Disorders are a complicated group of disorders characterized with heterogeneous genetic etiologies. The genetic investigations for this group of disorders have expanded considerably over the past decade. In our study we designed a tired approach and studied the diagnostic yield of chromosomal microarray analysis on patients referred to the Genetic and Developmental Medicine clinic in Sultan Qaboos University in Oman for autism spectrum disorders in a highly consanguineous population. Copy number variants were seen in 27 % of our studied cohort of patients and it was strongly associated with dysmorphic features and congenital anomalies. En ligne : http://dx.doi.org/10.1007/s10803-015-2394-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=263

Understanding discrepancy in autism epidemiology in view of underpinning genetic architecture: Lessons learnt from studies in consanguineous populations / Ahmed B. IDRIS in Research in Autism Spectrum Disorders, 93 (May 2022)  

Public ISBD [article]  inResearch in Autism Spectrum Disorders > 93 (May 2022) . - 101944 Titre : Understanding discrepancy in autism epidemiology in view of underpinning genetic architecture: Lessons learnt from studies in consanguineous populations Type de document : texte imprimé Auteurs : Ahmed B. IDRIS, Auteur ; Watfa AL-MAMARI, Auteur ; Reem ABDULRAHIM, Auteur ; Abeer ALSAYEGH, Auteur Article en page(s) : 101944 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : This short commentary aims to shed light on the discrepancy in the epidemiological findings and underlying genetic architecture of Autism Spectrum Disorder (ASD) between demographically distinct populations; consanguineous and non-consanguineous. Here we discuss the effect of advanced paternal age as a risk factor acting as a proxy for potential underlying genetic mechanisms. On that account, this narrative postulates that disparity might possibly be explained in the context of the differences in genetic makeup and abundance of recessive mutations in the highly consanguineous populations. En ligne : https://doi.org/10.1016/j.rasd.2022.101944 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=475 [article] Understanding discrepancy in autism epidemiology in view of underpinning genetic architecture: Lessons learnt from studies in consanguineous populations [texte imprimé] / Ahmed B. IDRIS, Auteur ; Watfa AL-MAMARI, Auteur ; Reem ABDULRAHIM, Auteur ; Abeer ALSAYEGH, Auteur . - 101944. Langues : Anglais (eng) in Research in Autism Spectrum Disorders > 93 (May 2022) . - 101944 Index. décimale : PER Périodiques Résumé : This short commentary aims to shed light on the discrepancy in the epidemiological findings and underlying genetic architecture of Autism Spectrum Disorder (ASD) between demographically distinct populations; consanguineous and non-consanguineous. Here we discuss the effect of advanced paternal age as a risk factor acting as a proxy for potential underlying genetic mechanisms. On that account, this narrative postulates that disparity might possibly be explained in the context of the differences in genetic makeup and abundance of recessive mutations in the highly consanguineous populations. En ligne : https://doi.org/10.1016/j.rasd.2022.101944 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=475

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