Clinical and neurobehavioral phenotype in children with autism and intragenic copy number duplications in CNTN4: Case series report / Ahmed B. IDRIS ; Najat FADLALLAH ; Saquib JALEES ; Muna AL-JABRI ; Al-Mundher AL-MAAWALI ; Abeer ALSAYEGH in Research in Autism Spectrum Disorders, 115 (July 2024)  

Public ISBD [article]  inResearch in Autism Spectrum Disorders > 115 (July 2024) . - p.102399 Titre : Clinical and neurobehavioral phenotype in children with autism and intragenic copy number duplications in CNTN4: Case series report Type de document : texte imprimé Auteurs : Ahmed B. IDRIS, Auteur ; Najat FADLALLAH, Auteur ; Saquib JALEES, Auteur ; Muna AL-JABRI, Auteur ; Al-Mundher AL-MAAWALI, Auteur ; Abeer ALSAYEGH, Auteur Article en page(s) : p.102399 Langues : Anglais (eng) Mots-clés : CNTN4  Neurobehavioral phenotype  Autism Index. décimale : PER Périodiques Résumé : Copy Number Variation (CNV) of contactin genes (CNTNs) - CNTN3, CNTN4, CNTN5, and CNTN6 - have been associated with various neurodevelopmental disorders, including Autism Spectrum Disorder (ASD). However, the literature on the associated phenotypes to specific copy number variants of these genes is still scarce. Therefore, limiting clinicians' and researchers' understanding of the impact of these CNVs makes genetic counselling regarding recurrence risks more challenging. In this study, we report on five patients with rare CNVs involving the CNTN4 gene and the associated clinical and neurobehavioral phenotype. Overall, the patients exhibited stereotypic motor symptoms, including finger and hand mannerisms (4/5), and repetitive use of objects (4/5), as well as sensory symptoms, including unusual sensory interests or hypersensitivity (4/5). One child of the cohort had epilepsy, and (4/5) had Intellectual Disability. All cases fulfilled DSM-5 criteria for diagnosis of Autism Spectrum Disorder (ASD). However, larger cohorts are needed for unbiased characterization of the phenotypic features associated with the genetic variations in CNTN4. En ligne : https://doi.org/10.1016/j.rasd.2024.102399 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=532 [article] Clinical and neurobehavioral phenotype in children with autism and intragenic copy number duplications in CNTN4: Case series report [texte imprimé] / Ahmed B. IDRIS, Auteur ; Najat FADLALLAH, Auteur ; Saquib JALEES, Auteur ; Muna AL-JABRI, Auteur ; Al-Mundher AL-MAAWALI, Auteur ; Abeer ALSAYEGH, Auteur . - p.102399. Langues : Anglais (eng) in Research in Autism Spectrum Disorders > 115 (July 2024) . - p.102399 Mots-clés : CNTN4  Neurobehavioral phenotype  Autism Index. décimale : PER Périodiques Résumé : Copy Number Variation (CNV) of contactin genes (CNTNs) - CNTN3, CNTN4, CNTN5, and CNTN6 - have been associated with various neurodevelopmental disorders, including Autism Spectrum Disorder (ASD). However, the literature on the associated phenotypes to specific copy number variants of these genes is still scarce. Therefore, limiting clinicians' and researchers' understanding of the impact of these CNVs makes genetic counselling regarding recurrence risks more challenging. In this study, we report on five patients with rare CNVs involving the CNTN4 gene and the associated clinical and neurobehavioral phenotype. Overall, the patients exhibited stereotypic motor symptoms, including finger and hand mannerisms (4/5), and repetitive use of objects (4/5), as well as sensory symptoms, including unusual sensory interests or hypersensitivity (4/5). One child of the cohort had epilepsy, and (4/5) had Intellectual Disability. All cases fulfilled DSM-5 criteria for diagnosis of Autism Spectrum Disorder (ASD). However, larger cohorts are needed for unbiased characterization of the phenotypic features associated with the genetic variations in CNTN4. En ligne : https://doi.org/10.1016/j.rasd.2024.102399 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=532

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

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