Age-Related Trajectories of Autistic Traits in Children With Angelman Syndrome / Sabine E. MOUS ; Leontine W. TEN HOOPEN ; André B. RIETMAN ; Kamil R. HIRALAL ; Karen G.C.B. BINDELS-DE HEUS ; Pieter F.A. DE NIJS ; Theresa C. MOHR ; Eline J. LENS ; Manon H.J. HILLEGERS ; Henriette A. MOLL ; Marie-Claire Y. DE WIT ; Gwen C. DIELEMAN in Autism Research, 18-4 (April 2025)  

Public ISBD [article]  inAutism Research > 18-4 (April 2025) . - p.870-880 Titre : Age-Related Trajectories of Autistic Traits in Children With Angelman Syndrome Type de document : texte imprimé Auteurs : Sabine E. MOUS, Auteur ; Leontine W. TEN HOOPEN, Auteur ; André B. RIETMAN, Auteur ; Kamil R. HIRALAL, Auteur ; Karen G.C.B. BINDELS-DE HEUS, Auteur ; Pieter F.A. DE NIJS, Auteur ; Theresa C. MOHR, Auteur ; Eline J. LENS, Auteur ; Manon H.J. HILLEGERS, Auteur ; Henriette A. MOLL, Auteur ; Marie-Claire Y. DE WIT, Auteur ; Gwen C. DIELEMAN, Auteur Article en page(s) : p.870-880 Langues : Anglais (eng) Mots-clés : Angelman syndrome  Autism Spectrum Disorder  autistic traits  longitudinal  repeated measures  sensory processing Index. décimale : PER Périodiques Résumé : ABSTRACT Angelman syndrome (AS) is a rare neurogenetic disorder. Previous studies indicate a high prevalence of autism spectrum disorder (ASD) with considerable variability. Little is known regarding the longitudinal trajectory of autistic traits. We aim to investigate autistic traits, the effect of age on these traits, and associated features in AS children. This (partly) longitudinal clinical record study at the ENCORE Expertise Center involved 107 AS children aged 2 18 with one (N 107), two (N 49), or three (N 14) measurements. Autistic traits and sensory processing issues were assessed using various instruments, and DSM classifications were used descriptively. Covariates were genotype, gender, and epilepsy. Results indicate a high prevalence of autistic traits and sensory processing issues. Children with the deletion genotype exhibited more autistic traits. Autism Diagnostic Observation Schedule (ADOS) classifications indicated higher rates of ASD compared to clinician DSM classifications. Autistic traits generally remained stable over time, except that ADOS scores significantly decreased for children with the UBE3A mutation genotype, and in the social affect domain for the entire group. In conclusion, incorporating the assessment of autistic traits and sensory processing into clinical practice for AS is important to inform adaptations of the environment to meet the child?s needs. Additionally, clinicians and researchers should be mindful of the potential for overestimating ASD traits in AS when relying on the ADOS. ASD diagnosis in AS should integrate multiple diagnostic instruments, diverse hetero-anamnestic sources, and multidisciplinary expert opinions. En ligne : https://doi.org/10.1002/aur.70017 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=554 [article] Age-Related Trajectories of Autistic Traits in Children With Angelman Syndrome [texte imprimé] / Sabine E. MOUS, Auteur ; Leontine W. TEN HOOPEN, Auteur ; André B. RIETMAN, Auteur ; Kamil R. HIRALAL, Auteur ; Karen G.C.B. BINDELS-DE HEUS, Auteur ; Pieter F.A. DE NIJS, Auteur ; Theresa C. MOHR, Auteur ; Eline J. LENS, Auteur ; Manon H.J. HILLEGERS, Auteur ; Henriette A. MOLL, Auteur ; Marie-Claire Y. DE WIT, Auteur ; Gwen C. DIELEMAN, Auteur . - p.870-880. Langues : Anglais (eng) in Autism Research > 18-4 (April 2025) . - p.870-880 Mots-clés : Angelman syndrome  Autism Spectrum Disorder  autistic traits  longitudinal  repeated measures  sensory processing Index. décimale : PER Périodiques Résumé : ABSTRACT Angelman syndrome (AS) is a rare neurogenetic disorder. Previous studies indicate a high prevalence of autism spectrum disorder (ASD) with considerable variability. Little is known regarding the longitudinal trajectory of autistic traits. We aim to investigate autistic traits, the effect of age on these traits, and associated features in AS children. This (partly) longitudinal clinical record study at the ENCORE Expertise Center involved 107 AS children aged 2 18 with one (N 107), two (N 49), or three (N 14) measurements. Autistic traits and sensory processing issues were assessed using various instruments, and DSM classifications were used descriptively. Covariates were genotype, gender, and epilepsy. Results indicate a high prevalence of autistic traits and sensory processing issues. Children with the deletion genotype exhibited more autistic traits. Autism Diagnostic Observation Schedule (ADOS) classifications indicated higher rates of ASD compared to clinician DSM classifications. Autistic traits generally remained stable over time, except that ADOS scores significantly decreased for children with the UBE3A mutation genotype, and in the social affect domain for the entire group. In conclusion, incorporating the assessment of autistic traits and sensory processing into clinical practice for AS is important to inform adaptations of the environment to meet the child?s needs. Additionally, clinicians and researchers should be mindful of the potential for overestimating ASD traits in AS when relying on the ADOS. ASD diagnosis in AS should integrate multiple diagnostic instruments, diverse hetero-anamnestic sources, and multidisciplinary expert opinions. En ligne : https://doi.org/10.1002/aur.70017 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=554

Motor problems in children with neurofibromatosis type 1 / André B. RIETMAN in Journal of Neurodevelopmental Disorders, 9-1 (December 2017)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 9-1 (December 2017) . - p.19 Titre : Motor problems in children with neurofibromatosis type 1 Type de document : texte imprimé Auteurs : André B. RIETMAN, Auteur ; Rianne OOSTENBRINK, Auteur ; Sanne BONGERS, Auteur ; Eddy GAUKEMA, Auteur ; Sandra VAN ABEELEN, Auteur ; Jos G. HENDRIKSEN, Auteur ; Caspar W.N. LOOMAN, Auteur ; Pieter F.A. DE NIJS, Auteur ; Marie-Claire DE WIT, Auteur Article en page(s) : p.19 Langues : Anglais (eng) Mots-clés : Dcd  Emotional and behavioural problems  Intelligence  Motor problems  Neurofibromatosis type 1 Index. décimale : PER Périodiques Résumé : BACKGROUND: Children with the neurogenetic disorder neurofibromatosis type 1 (NF1) often have problems with learning and behaviour. In both parent reports and neuropsychological assessment, motor problems are reported in approximately one third to one half of the children with NF1. Studies using broad motor performance test batteries with relatively large groups of children with NF1 are limited. The aim of this cross-sectional observational study was to describe the severity of motor problems in children with NF1 and to explore the predictive value of demographics, intelligence, and behavioural problems. METHODS: From 2002 to 2014, 69 children with NF1, aged 4 to 16 years (age = 9.5 +/- 2.8 years; 29 girls) had a motor, psychological, and neurological evaluation in an NF1 expertise centre. Data were collected about (1) motor performance (M-ABC: Movement Assessment Battery for Children), (2) intelligence, and (3) emotional and behavioural problems as rated by parents. RESULTS: Sixty-one percent of these children scored within the clinical range of the M-ABC. In ordinal logistic regression analyses, motor problems were associated with symptoms of attention-deficit/hyperactivity disorder (ADHD), symptoms of autism spectrum disorder (ASD), and externalising behavioural problems. Motor outcome was not predicted by age, intelligence, scoliosis, hypotonia, nor hypermobility. CONCLUSIONS: Motor problems are among the most common comorbid developmental problems in children with NF1, and these problems do not diminish with age. Because of their impact on daily functioning, motor problems need to be specifically addressed in diagnosis, follow-up, and treatment of NF1. En ligne : http://dx.doi.org/10.1186/s11689-017-9198-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=350 [article] Motor problems in children with neurofibromatosis type 1 [texte imprimé] / André B. RIETMAN, Auteur ; Rianne OOSTENBRINK, Auteur ; Sanne BONGERS, Auteur ; Eddy GAUKEMA, Auteur ; Sandra VAN ABEELEN, Auteur ; Jos G. HENDRIKSEN, Auteur ; Caspar W.N. LOOMAN, Auteur ; Pieter F.A. DE NIJS, Auteur ; Marie-Claire DE WIT, Auteur . - p.19. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 9-1 (December 2017) . - p.19 Mots-clés : Dcd  Emotional and behavioural problems  Intelligence  Motor problems  Neurofibromatosis type 1 Index. décimale : PER Périodiques Résumé : BACKGROUND: Children with the neurogenetic disorder neurofibromatosis type 1 (NF1) often have problems with learning and behaviour. In both parent reports and neuropsychological assessment, motor problems are reported in approximately one third to one half of the children with NF1. Studies using broad motor performance test batteries with relatively large groups of children with NF1 are limited. The aim of this cross-sectional observational study was to describe the severity of motor problems in children with NF1 and to explore the predictive value of demographics, intelligence, and behavioural problems. METHODS: From 2002 to 2014, 69 children with NF1, aged 4 to 16 years (age = 9.5 +/- 2.8 years; 29 girls) had a motor, psychological, and neurological evaluation in an NF1 expertise centre. Data were collected about (1) motor performance (M-ABC: Movement Assessment Battery for Children), (2) intelligence, and (3) emotional and behavioural problems as rated by parents. RESULTS: Sixty-one percent of these children scored within the clinical range of the M-ABC. In ordinal logistic regression analyses, motor problems were associated with symptoms of attention-deficit/hyperactivity disorder (ADHD), symptoms of autism spectrum disorder (ASD), and externalising behavioural problems. Motor outcome was not predicted by age, intelligence, scoliosis, hypotonia, nor hypermobility. CONCLUSIONS: Motor problems are among the most common comorbid developmental problems in children with NF1, and these problems do not diminish with age. Because of their impact on daily functioning, motor problems need to be specifically addressed in diagnosis, follow-up, and treatment of NF1. En ligne : http://dx.doi.org/10.1186/s11689-017-9198-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=350

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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