Autism Spectrum Disorder Symptom Profiles in Fragile X Syndrome, Angelman Syndrome, Tuberous Sclerosis Complex and Neurofibromatosis Type 1 / Kyra LUBBERS in Journal of Autism and Developmental Disorders, 56-2 (February 2026)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 56-2 (February 2026) . - p.793-807 Titre : Autism Spectrum Disorder Symptom Profiles in Fragile X Syndrome, Angelman Syndrome, Tuberous Sclerosis Complex and Neurofibromatosis Type 1 Type de document : texte imprimé Auteurs : Kyra LUBBERS, Auteur ; Kamil R. HIRALAL, Auteur ; Gwendolyn C. DIELEMAN, Auteur ; Doesjka A. HAGENAAR, Auteur ; Bram DIERCKX, Auteur ; Jeroen S. LEGERSTEE, Auteur ; Pieter F. A. DE NIJS, Auteur ; André B. RIETMAN, Auteur ; Rianne OOSTENBRINK, Auteur ; Karen G. C. B. BINDELS-DE HEUS, Auteur ; Marie-Claire Y. DE WIT, Auteur ; Manon H. J. HILLEGERS, Auteur ; Leontine W. TEN HOOPEN, Auteur ; Sabine E. MOUS, Auteur Article en page(s) : p.793-807 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Studying Autism Spectrum Disorder (ASD) heterogeneity in biologically homogeneous samples may increase our knowledge of ASD etiology. Fragile X syndrome (FXS), Angelman syndrome (AS), Tuberous Sclerosis Complex (TSC), and Neurofibromatosis type 1 (NF1) are monogenic disorders with high a prevalence of ASD symptomatology. This study aimed to identify ASD symptom profiles in a large group of children and adolescents (0;9–28 years) with FXS, AS, TSC, and NF1. Data on ASD symptomatology (Autism Diagnostic Observation Scale (ADOS-2) & Social Responsiveness Scale (SRS-2)) were collected from children and adolescents with FXS (n = 54), AS (n = 93), TSC (n = 112), and NF1 (n = 278). To identify groups of individuals with similar ASD profiles, we performed two latent profile analyses. We identified a four-profile model based on the ADOS-2, with a (1) ‘Non-spectrum symptom profile’, (2) ‘Social Affect symptom profile’, (3)‘Restricted/Repetitive Behaviors symptom profile’, and (4)‘ASD symptom profile’. We also identified a four-profile model based on the SRS, with a (1)‘Non-clinical symptom profile’, (2)‘Mild symptom profile’, (3)‘Moderate symptom profile’, and (4)‘Severe symptom profile’. Although each syndrome group exhibited varying degrees of severity, they also displayed heterogeneity in the profiles in which they were classified. We found distinct ASD symptom profiles in a population consisting of children and adolescents with FXS, AS, TSC, and NF1. Our study highlights the importance of a personalized approach to the identification and management of ASD symptoms in rare genetic syndromes. Future studies should aim to include more domains of functioning and investigate the stability of latent profiles over time. En ligne : https://doi.org/10.1007/s10803-024-06557-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=580 [article] Autism Spectrum Disorder Symptom Profiles in Fragile X Syndrome, Angelman Syndrome, Tuberous Sclerosis Complex and Neurofibromatosis Type 1 [texte imprimé] / Kyra LUBBERS, Auteur ; Kamil R. HIRALAL, Auteur ; Gwendolyn C. DIELEMAN, Auteur ; Doesjka A. HAGENAAR, Auteur ; Bram DIERCKX, Auteur ; Jeroen S. LEGERSTEE, Auteur ; Pieter F. A. DE NIJS, Auteur ; André B. RIETMAN, Auteur ; Rianne OOSTENBRINK, Auteur ; Karen G. C. B. BINDELS-DE HEUS, Auteur ; Marie-Claire Y. DE WIT, Auteur ; Manon H. J. HILLEGERS, Auteur ; Leontine W. TEN HOOPEN, Auteur ; Sabine E. MOUS, Auteur . - p.793-807. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 56-2 (February 2026) . - p.793-807 Index. décimale : PER Périodiques Résumé : Studying Autism Spectrum Disorder (ASD) heterogeneity in biologically homogeneous samples may increase our knowledge of ASD etiology. Fragile X syndrome (FXS), Angelman syndrome (AS), Tuberous Sclerosis Complex (TSC), and Neurofibromatosis type 1 (NF1) are monogenic disorders with high a prevalence of ASD symptomatology. This study aimed to identify ASD symptom profiles in a large group of children and adolescents (0;9–28 years) with FXS, AS, TSC, and NF1. Data on ASD symptomatology (Autism Diagnostic Observation Scale (ADOS-2) & Social Responsiveness Scale (SRS-2)) were collected from children and adolescents with FXS (n = 54), AS (n = 93), TSC (n = 112), and NF1 (n = 278). To identify groups of individuals with similar ASD profiles, we performed two latent profile analyses. We identified a four-profile model based on the ADOS-2, with a (1) ‘Non-spectrum symptom profile’, (2) ‘Social Affect symptom profile’, (3)‘Restricted/Repetitive Behaviors symptom profile’, and (4)‘ASD symptom profile’. We also identified a four-profile model based on the SRS, with a (1)‘Non-clinical symptom profile’, (2)‘Mild symptom profile’, (3)‘Moderate symptom profile’, and (4)‘Severe symptom profile’. Although each syndrome group exhibited varying degrees of severity, they also displayed heterogeneity in the profiles in which they were classified. We found distinct ASD symptom profiles in a population consisting of children and adolescents with FXS, AS, TSC, and NF1. Our study highlights the importance of a personalized approach to the identification and management of ASD symptoms in rare genetic syndromes. Future studies should aim to include more domains of functioning and investigate the stability of latent profiles over time. En ligne : https://doi.org/10.1007/s10803-024-06557-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=580

Latent trajectories in autistic individuals: A systematic review / Kamil R. HIRALAL in Autism, 30-2 (February 2026)  

Public ISBD [article]  inAutism > 30-2 (February 2026) . - p.285-299 Titre : Latent trajectories in autistic individuals: A systematic review Type de document : texte imprimé Auteurs : Kamil R. HIRALAL, Auteur ; Gwendolyn C. DIELEMAN, Auteur ; Britt R. KOK, Auteur ; Luka D. DIEDEREN, Auteur ; Rana P. DUMAN, Auteur ; Manon H.J. HILLEGERS, Auteur ; Sabine E. MOUS, Auteur Article en page(s) : p.285-299 Langues : Anglais (eng) Mots-clés : autism spectrum disorder  development  heterogeneity  systematic review Index. décimale : PER Périodiques Résumé : Autism is heterogenic in core and co-occurring characteristics. Subtyping autism in a longitudinal manner aids the understanding of autism development throughout life and thus enhances personalized support. In this systematic review, we summarized the literature on latent core autism characteristics trajectories and trajectories of other functional domains in autistic individuals and identified predictors of trajectory assignment. We searched Embase, Medline, PsycINFO, Cochrane Central, Web of Science, and Google Scholar until April 22, 2025. We included longitudinal observational studies that applied statistical subtyping methods on core autism characteristics or other functional domains in autistic individuals. A total of 30 eligible analyses were included. The included analyses investigated core autism characteristics (10), adaptive behavior (10), behavioral problems (7), adverse childhood experiences (1), cognitive development (1), and feeding problems (1). For each domain, we found differing numbers and shapes of trajectories. Cognitive development was predictive of core autism symptom trajectory classifications, where cognitive development was generally lower in more severely affected core autism symptom trajectories. We found mixed results for other predictors. Future studies should focus on understudied outcome domains, such as motor coordination or sleep problems. In addition, more research is needed to understand when and why individuals deviate from their subgroup trajectory.Lay abstract Autistic people can have very different characteristics. Investigating groups based on their characteristics over time can improve our understanding of how autistic people develop and why development can differ between people. We reviewed studies that group autistic individuals based on their development of autistic features and other characteristics. We included 30 analyses and summarized their findings. The studies show that there are different ways autistic individuals develop based on core autistic characteristics (social difficulties and focused, intense and repetitive behaviors, interests and activities), as well as for adaptive behavior, behavioral problems, cognitive development, and feeding problems. For core characteristics, lower cognitive abilities seemed to be related to less favorable developmental pathways. This review showed that autistic people may show distinct patterns of development in core characteristics and other domains. We also highlight that some domains of functioning, such as motor coordination and sleeping problems, are not studied in the literature and future studies should focus on these domains as well since these are difficulties that autistic people often face. Identifying distinct developmental patterns in autistic children can help to predict the outcome of autistic people and may aid in offering personalized support. En ligne : https://dx.doi.org/10.1177/13623613251370818 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=578 [article] Latent trajectories in autistic individuals: A systematic review [texte imprimé] / Kamil R. HIRALAL, Auteur ; Gwendolyn C. DIELEMAN, Auteur ; Britt R. KOK, Auteur ; Luka D. DIEDEREN, Auteur ; Rana P. DUMAN, Auteur ; Manon H.J. HILLEGERS, Auteur ; Sabine E. MOUS, Auteur . - p.285-299. Langues : Anglais (eng) in Autism > 30-2 (February 2026) . - p.285-299 Mots-clés : autism spectrum disorder  development  heterogeneity  systematic review Index. décimale : PER Périodiques Résumé : Autism is heterogenic in core and co-occurring characteristics. Subtyping autism in a longitudinal manner aids the understanding of autism development throughout life and thus enhances personalized support. In this systematic review, we summarized the literature on latent core autism characteristics trajectories and trajectories of other functional domains in autistic individuals and identified predictors of trajectory assignment. We searched Embase, Medline, PsycINFO, Cochrane Central, Web of Science, and Google Scholar until April 22, 2025. We included longitudinal observational studies that applied statistical subtyping methods on core autism characteristics or other functional domains in autistic individuals. A total of 30 eligible analyses were included. The included analyses investigated core autism characteristics (10), adaptive behavior (10), behavioral problems (7), adverse childhood experiences (1), cognitive development (1), and feeding problems (1). For each domain, we found differing numbers and shapes of trajectories. Cognitive development was predictive of core autism symptom trajectory classifications, where cognitive development was generally lower in more severely affected core autism symptom trajectories. We found mixed results for other predictors. Future studies should focus on understudied outcome domains, such as motor coordination or sleep problems. In addition, more research is needed to understand when and why individuals deviate from their subgroup trajectory.Lay abstract Autistic people can have very different characteristics. Investigating groups based on their characteristics over time can improve our understanding of how autistic people develop and why development can differ between people. We reviewed studies that group autistic individuals based on their development of autistic features and other characteristics. We included 30 analyses and summarized their findings. The studies show that there are different ways autistic individuals develop based on core autistic characteristics (social difficulties and focused, intense and repetitive behaviors, interests and activities), as well as for adaptive behavior, behavioral problems, cognitive development, and feeding problems. For core characteristics, lower cognitive abilities seemed to be related to less favorable developmental pathways. This review showed that autistic people may show distinct patterns of development in core characteristics and other domains. We also highlight that some domains of functioning, such as motor coordination and sleeping problems, are not studied in the literature and future studies should focus on these domains as well since these are difficulties that autistic people often face. Identifying distinct developmental patterns in autistic children can help to predict the outcome of autistic people and may aid in offering personalized support. En ligne : https://dx.doi.org/10.1177/13623613251370818 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=578

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