Genetically informed learning interventions for autism spectrum disorder: A systematic review of randomized controlled trials / Öznur Özge ÖZCAN in Research in Autism, 129 (January 2026)  

Public ISBD [article]  inResearch in Autism > 129 (January 2026) . - 202742 Titre : Genetically informed learning interventions for autism spectrum disorder: A systematic review of randomized controlled trials Type de document : texte imprimé Auteurs : Öznur Özge ÖZCAN, Auteur ; Burcu ÇEVRELI, Auteur ; Marwan Abdelmahmoud Abdelkarim MAKI, Auteur ; Palanirajan Vijayaraj KUMAR, Auteur ; Türker Tekin ERGÃœZEL, Auteur Année de publication : 2026 Article en page(s) : 202742 Langues : Anglais (eng) Mots-clés : Autism spectrum disorder  Genetics  Learning  Randomized controlled trials  Precision intervention  Early behavioral therapy Index. décimale : PER Périodiques Résumé : Background Autism spectrum disorder (ASD) is a genetically heterogeneous neurodevelopmental condition in which structured, learning-based interventions can promote developmental gains. However, the moderating role of genetic or ASD releated neurobiological factors in treatment responsiveness remains unclear. Methods We conducted a systematic review of randomized controlled trials (RCTs) that combined structured, learning-based interventions with either direct genetic stratification (e.g., polygenic risk scores, rare variants) or indirect neurobiological proxies (e.g., EEG, developmental profiles). The risk of bias was assessed via the Cochrane RoB 2.0 tool. Results Comprehensive database searches yielded 6565 records, of which 95 full texts were screened until June 2025. Seven RCTs met inclusion criteria. The seven trials, included a total of ∼650 participants aged 18 months to 17 years. Four studies reported significant gains in IQ, language, and adaptive behavior following early behavioral interventions (e.g., ESDM, iPad-assisted therapy, parent-mediated training). Telehealth approaches demonstrated comparable feasibility and effectiveness to in-person delivery. Two genotype-stratified RCTs provided novel evidence of biological moderation: one large-scale trial (n = 207) showed that children with rare exonic variants exhibited reduced responsiveness to social skills group training, while another (n = 188) linked higher ADHD polygenic risk scores and synaptic burden to poorer intervention outcomes. Risk of bias was generally moderate to low, and certainty of evidence ranged from moderate (small pilot studies) to high (large, multicenter RCTs). Conclusion Early structured learning interventions consistently improve developmental outcomes in children with ASD, with emerging evidence that genetic architecture may shape individual variability in treatment response. These findings highlight the need to integrate genetic and neurobiological data into future trials to advance precision education and personalized intervention strategies. En ligne : https://doi.org/10.1016/j.reia.2025.202742 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=573 [article] Genetically informed learning interventions for autism spectrum disorder: A systematic review of randomized controlled trials [texte imprimé] / Öznur Özge ÖZCAN, Auteur ; Burcu ÇEVRELI, Auteur ; Marwan Abdelmahmoud Abdelkarim MAKI, Auteur ; Palanirajan Vijayaraj KUMAR, Auteur ; Türker Tekin ERGÃœZEL, Auteur . - 2026 . - 202742. Langues : Anglais (eng) in Research in Autism > 129 (January 2026) . - 202742 Mots-clés : Autism spectrum disorder  Genetics  Learning  Randomized controlled trials  Precision intervention  Early behavioral therapy Index. décimale : PER Périodiques Résumé : Background Autism spectrum disorder (ASD) is a genetically heterogeneous neurodevelopmental condition in which structured, learning-based interventions can promote developmental gains. However, the moderating role of genetic or ASD releated neurobiological factors in treatment responsiveness remains unclear. Methods We conducted a systematic review of randomized controlled trials (RCTs) that combined structured, learning-based interventions with either direct genetic stratification (e.g., polygenic risk scores, rare variants) or indirect neurobiological proxies (e.g., EEG, developmental profiles). The risk of bias was assessed via the Cochrane RoB 2.0 tool. Results Comprehensive database searches yielded 6565 records, of which 95 full texts were screened until June 2025. Seven RCTs met inclusion criteria. The seven trials, included a total of ∼650 participants aged 18 months to 17 years. Four studies reported significant gains in IQ, language, and adaptive behavior following early behavioral interventions (e.g., ESDM, iPad-assisted therapy, parent-mediated training). Telehealth approaches demonstrated comparable feasibility and effectiveness to in-person delivery. Two genotype-stratified RCTs provided novel evidence of biological moderation: one large-scale trial (n = 207) showed that children with rare exonic variants exhibited reduced responsiveness to social skills group training, while another (n = 188) linked higher ADHD polygenic risk scores and synaptic burden to poorer intervention outcomes. Risk of bias was generally moderate to low, and certainty of evidence ranged from moderate (small pilot studies) to high (large, multicenter RCTs). Conclusion Early structured learning interventions consistently improve developmental outcomes in children with ASD, with emerging evidence that genetic architecture may shape individual variability in treatment response. These findings highlight the need to integrate genetic and neurobiological data into future trials to advance precision education and personalized intervention strategies. En ligne : https://doi.org/10.1016/j.reia.2025.202742 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=573

Seizure type and antiepileptic drug use drive neurobehavioral severity in genetically defined autism: Evidence from Fragile X and Rett syndromes / Burcu ÇEVRELI in Research in Autism, 136 (August 2026)  

Public ISBD [article]  inResearch in Autism > 136 (August 2026) . - 202946 Titre : Seizure type and antiepileptic drug use drive neurobehavioral severity in genetically defined autism: Evidence from Fragile X and Rett syndromes Type de document : texte imprimé Auteurs : Burcu ÇEVRELI, Auteur ; Öznur Özge ÖZCAN, Auteur ; Bekir Barış GERGER, Auteur ; ErtuÄŸrul Ekber DEMIRHAN, Auteur ; Türker Tekin ERGÃœZEL, Auteur Article en page(s) : 202946 Langues : Anglais (eng) Mots-clés : Autism spectrum disorder  Fragile X syndrome  Rett syndrome  Epilepsy  Antiepileptic drugs  Sensory reactivity  Executive functioning Index. décimale : PER Périodiques Résumé : Background Autism spectrum disorder (ASD) and genetically defined conditions such as Fragile X syndrome (FXS) and Rett syndrome (RTT) are characterized by substantial neurobehavioral heterogeneity. Although sensory and executive dysfunction are well established, the relative contribution of epilepsy burden and pharmacological treatment to autism severity remains unclear. Methods This study included 263 children with ASD (n = 96), FXS (n = 84), and RTT (n = 83). Sensory reactivity, executive functioning, and autism severity were assessed using standardized caregiver-reported scales. Group comparisons, correlation analyses, and multiple regression models were conducted to examine multidomain relationships. Results A consistent gradient of impairment was observed across groups (ASD < FXS < RTT). While sensory and executive domains were significantly associated with autism severity, epilepsy-related variables emerged as the strongest predictors, particularly in RTT. Seizure type and antiepileptic drug use showed the largest effects, with regression analyses indicating that these factors accounted for a substantial proportion of variance in autism severity. In contrast, environmental and intervention-related factors had stronger effects in ASD and FXS, suggesting greater neurodevelopmental plasticity. Correlation analyses further revealed distinct network patterns, with ASD showing a flexible multidomain structure and RTT a more biologically constrained profile. Conclusions These findings support an epilepsy-driven model of neurobehavioral severity in genetically defined autism and highlight the differential balance between biological constraint and environmental modulation across diagnostic groups. Integrating seizure phenotype and treatment burden into clinical assessment may improve individualized intervention strategies and advance precision medicine approaches in neurodevelopmental disorders. En ligne : https://doi.org/10.1016/j.reia.2026.202946 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=592 [article] Seizure type and antiepileptic drug use drive neurobehavioral severity in genetically defined autism: Evidence from Fragile X and Rett syndromes [texte imprimé] / Burcu ÇEVRELI, Auteur ; Öznur Özge ÖZCAN, Auteur ; Bekir Barış GERGER, Auteur ; ErtuÄŸrul Ekber DEMIRHAN, Auteur ; Türker Tekin ERGÃœZEL, Auteur . - 202946. Langues : Anglais (eng) in Research in Autism > 136 (August 2026) . - 202946 Mots-clés : Autism spectrum disorder  Fragile X syndrome  Rett syndrome  Epilepsy  Antiepileptic drugs  Sensory reactivity  Executive functioning Index. décimale : PER Périodiques Résumé : Background Autism spectrum disorder (ASD) and genetically defined conditions such as Fragile X syndrome (FXS) and Rett syndrome (RTT) are characterized by substantial neurobehavioral heterogeneity. Although sensory and executive dysfunction are well established, the relative contribution of epilepsy burden and pharmacological treatment to autism severity remains unclear. Methods This study included 263 children with ASD (n = 96), FXS (n = 84), and RTT (n = 83). Sensory reactivity, executive functioning, and autism severity were assessed using standardized caregiver-reported scales. Group comparisons, correlation analyses, and multiple regression models were conducted to examine multidomain relationships. Results A consistent gradient of impairment was observed across groups (ASD < FXS < RTT). While sensory and executive domains were significantly associated with autism severity, epilepsy-related variables emerged as the strongest predictors, particularly in RTT. Seizure type and antiepileptic drug use showed the largest effects, with regression analyses indicating that these factors accounted for a substantial proportion of variance in autism severity. In contrast, environmental and intervention-related factors had stronger effects in ASD and FXS, suggesting greater neurodevelopmental plasticity. Correlation analyses further revealed distinct network patterns, with ASD showing a flexible multidomain structure and RTT a more biologically constrained profile. Conclusions These findings support an epilepsy-driven model of neurobehavioral severity in genetically defined autism and highlight the differential balance between biological constraint and environmental modulation across diagnostic groups. Integrating seizure phenotype and treatment burden into clinical assessment may improve individualized intervention strategies and advance precision medicine approaches in neurodevelopmental disorders. En ligne : https://doi.org/10.1016/j.reia.2026.202946 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=592

---

1 (1 - 2 / 2) Par page : 25 50 100 200