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

Outcome measures in Angelman syndrome / Doesjka A. HAGENAAR in Journal of Neurodevelopmental Disorders, 16 (2024)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 16 (2024) Titre : Outcome measures in Angelman syndrome Type de document : texte imprimé Auteurs : Doesjka A. HAGENAAR, Auteur ; Karen G.C.B. BINDELS-DE HEUS, Auteur ; Maud M. VAN GILS, Auteur ; Louise VAN DEN BERG, Auteur ; Leontine W. TEN HOOPEN, Auteur ; Philine AFFOURTIT, Auteur ; Johan J.M. PEL, Auteur ; Koen F.M. JOOSTEN, Auteur ; Manon H.J. HILLEGERS, Auteur ; Henriette A. MOLL, Auteur ; Marie-Claire Y. DE WIT, Auteur ; Gwen C. DIELEMAN, Auteur ; Sabine E. MOUS, Auteur Langues : Anglais (eng) Mots-clés : Child  Humans  Angelman Syndrome/complications/diagnosis  Reproducibility of Results  Body Composition  Plethysmography/methods  Electric Impedance  Angelman syndrome  Bod pod  Bio-impedance analysis  Eye-tracking  Functional near-Infrared Spectroscopy  Indirect calorimetry  Outcome measures  hospital received funding for this study. The hospital also received compensation  for advice to Roche and Jazz Pharmaceuticals. The department of Child- and  Adolescent Psychiatry/Psychology (Erasmus MC) is the Dutch distributer of the  Achenbach System of Empirically Based Assessment (ASEBA) measurement instruments,  which include the Child Behaviour Checklist (CBCL). The department receives  financial compensation for selling the measurement instruments. All other authors  have no conflict of interest to declare. Index. décimale : PER Périodiques Résumé : BACKGROUND: Angelman syndrome (AS) is a rare neurodevelopmental disorder characterized by severe intellectual disability, little to no expressive speech, visual and motor problems, emotional/behavioral challenges, and a tendency towards hyperphagia and weight gain. The characteristics of AS make it difficult to measure these children's functioning with standard clinical tests. Feasible outcome measures are needed to measure current functioning and change over time, in clinical practice and clinical trials. AIM: Our first aim is to assess the feasibility of several functional tests. We target domains of neurocognitive functioning and physical growth using the following measurement methods: eye-tracking, functional Near-Infrared Spectroscopy (fNIRS), indirect calorimetry, bio-impedance analysis (BIA), and BOD POD (air-displacement plethysmography). Our second aim is to explore the results of the above measures, in order to better understand the AS phenotype. METHODS: The study sample consisted of 28 children with AS aged 2-18 years. We defined an outcome measure as feasible when (1) at least 70% of participants successfully finished the measurement and (2) at least 60% of those participants had acceptable data quality. Adaptations to the test procedure and reasons for early termination were noted. Parents rated acceptability and importance and were invited to make recommendations to increase feasibility. The results of the measures were explored. RESULTS: Outcome measures obtained with eye-tracking and BOD POD met the definition of feasibility, while fNIRS, indirect calorimetry, and BIA did not. The most important reasons for early termination of measurements were showing signs of protest, inability to sit still and poor/no calibration (eye-tracking specific). Post-calibration was often applied to obtain valid eye-tracking results. Parents rated the BOD POD als most acceptable and fNIRS as least acceptable for their child. All outcome measures were rated to be important. Exploratory results indicated longer reaction times to high salient visual stimuli (eye-tracking) as well as high body fat percentage (BOD POD). CONCLUSIONS: Eye-tracking and BOD POD are feasible measurement methods for children with AS. Eye-tracking was successfully used to assess visual orienting functions in the current study and (with some practical adaptations) can potentially be used to assess other outcomes as well. BOD POD was successfully used to examine body composition. TRIAL REGISTRATION: Registered d.d. 23-04-2020 under number 'NL8550' in the Dutch Trial Register: https://onderzoekmetmensen.nl/en/trial/23075. En ligne : https://dx.doi.org/10.1186/s11689-024-09516-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575 [article] Outcome measures in Angelman syndrome [texte imprimé] / Doesjka A. HAGENAAR, Auteur ; Karen G.C.B. BINDELS-DE HEUS, Auteur ; Maud M. VAN GILS, Auteur ; Louise VAN DEN BERG, Auteur ; Leontine W. TEN HOOPEN, Auteur ; Philine AFFOURTIT, Auteur ; Johan J.M. PEL, Auteur ; Koen F.M. JOOSTEN, Auteur ; Manon H.J. HILLEGERS, Auteur ; Henriette A. MOLL, Auteur ; Marie-Claire Y. DE WIT, Auteur ; Gwen C. DIELEMAN, Auteur ; Sabine E. MOUS, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 16 (2024) Mots-clés : Child  Humans  Angelman Syndrome/complications/diagnosis  Reproducibility of Results  Body Composition  Plethysmography/methods  Electric Impedance  Angelman syndrome  Bod pod  Bio-impedance analysis  Eye-tracking  Functional near-Infrared Spectroscopy  Indirect calorimetry  Outcome measures  hospital received funding for this study. The hospital also received compensation  for advice to Roche and Jazz Pharmaceuticals. The department of Child- and  Adolescent Psychiatry/Psychology (Erasmus MC) is the Dutch distributer of the  Achenbach System of Empirically Based Assessment (ASEBA) measurement instruments,  which include the Child Behaviour Checklist (CBCL). The department receives  financial compensation for selling the measurement instruments. All other authors  have no conflict of interest to declare. Index. décimale : PER Périodiques Résumé : BACKGROUND: Angelman syndrome (AS) is a rare neurodevelopmental disorder characterized by severe intellectual disability, little to no expressive speech, visual and motor problems, emotional/behavioral challenges, and a tendency towards hyperphagia and weight gain. The characteristics of AS make it difficult to measure these children's functioning with standard clinical tests. Feasible outcome measures are needed to measure current functioning and change over time, in clinical practice and clinical trials. AIM: Our first aim is to assess the feasibility of several functional tests. We target domains of neurocognitive functioning and physical growth using the following measurement methods: eye-tracking, functional Near-Infrared Spectroscopy (fNIRS), indirect calorimetry, bio-impedance analysis (BIA), and BOD POD (air-displacement plethysmography). Our second aim is to explore the results of the above measures, in order to better understand the AS phenotype. METHODS: The study sample consisted of 28 children with AS aged 2-18 years. We defined an outcome measure as feasible when (1) at least 70% of participants successfully finished the measurement and (2) at least 60% of those participants had acceptable data quality. Adaptations to the test procedure and reasons for early termination were noted. Parents rated acceptability and importance and were invited to make recommendations to increase feasibility. The results of the measures were explored. RESULTS: Outcome measures obtained with eye-tracking and BOD POD met the definition of feasibility, while fNIRS, indirect calorimetry, and BIA did not. The most important reasons for early termination of measurements were showing signs of protest, inability to sit still and poor/no calibration (eye-tracking specific). Post-calibration was often applied to obtain valid eye-tracking results. Parents rated the BOD POD als most acceptable and fNIRS as least acceptable for their child. All outcome measures were rated to be important. Exploratory results indicated longer reaction times to high salient visual stimuli (eye-tracking) as well as high body fat percentage (BOD POD). CONCLUSIONS: Eye-tracking and BOD POD are feasible measurement methods for children with AS. Eye-tracking was successfully used to assess visual orienting functions in the current study and (with some practical adaptations) can potentially be used to assess other outcomes as well. BOD POD was successfully used to examine body composition. TRIAL REGISTRATION: Registered d.d. 23-04-2020 under number 'NL8550' in the Dutch Trial Register: https://onderzoekmetmensen.nl/en/trial/23075. En ligne : https://dx.doi.org/10.1186/s11689-024-09516-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575

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