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

Autism Spectrum Disorder in an Unselected Cohort of Children with Neurofibromatosis Type 1 (NF1) / S. EIJK in Journal of Autism and Developmental Disorders, 48-7 (July 2018)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 48-7 (July 2018) . - p.2278-2285 Titre : Autism Spectrum Disorder in an Unselected Cohort of Children with Neurofibromatosis Type 1 (NF1) Type de document : texte imprimé Auteurs : S. EIJK, Auteur ; Sabine E. MOUS, Auteur ; Gwen C. DIELEMAN, Auteur ; Bram DIERCKX, Auteur ; André B. RIETMAN, Auteur ; Pieter F.A. DE NIJS, Auteur ; Leontine W. TEN HOOPEN, Auteur ; R. VAN MINKELEN, Auteur ; Ype ELGERSMA, Auteur ; Coriene E. CATSMAN-BERREVOETS, Auteur ; Rianne OOSTENBRINK, Auteur ; J.S. LEGERSTEE, Auteur Article en page(s) : p.2278-2285 Langues : Anglais (eng) Mots-clés : Autism diagnostic observation schedule  Autism spectrum disorder  Autistic traits  Neurofibromatosis type 1  Prevalence  Social responsiveness scale Index. décimale : PER Périodiques Résumé : In a non-selected sample of children with Neurofibromatosis type 1 (NF1) the prevalence rate of autism spectrum disorder (ASD) and predictive value of an observational (ADOS)-and questionnaire-based screening instrument were assessed. Complete data was available for 128 children. The prevalence rate for clinical ASD was 10.9%, which is clearly higher than in the general population. This prevalence rate is presumably more accurate than in previous studies that examined children with NF1 with an ASD presumption or solely based on screening instruments. The combined observational- and screening based classifications demonstrated the highest positive predictive value for DSM-IV diagnosis, highlighting the importance of using both instruments in children with NF1. En ligne : http://dx.doi.org/10.1007/s10803-018-3478-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=367 [article] Autism Spectrum Disorder in an Unselected Cohort of Children with Neurofibromatosis Type 1 (NF1) [texte imprimé] / S. EIJK, Auteur ; Sabine E. MOUS, Auteur ; Gwen C. DIELEMAN, Auteur ; Bram DIERCKX, Auteur ; André B. RIETMAN, Auteur ; Pieter F.A. DE NIJS, Auteur ; Leontine W. TEN HOOPEN, Auteur ; R. VAN MINKELEN, Auteur ; Ype ELGERSMA, Auteur ; Coriene E. CATSMAN-BERREVOETS, Auteur ; Rianne OOSTENBRINK, Auteur ; J.S. LEGERSTEE, Auteur . - p.2278-2285. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 48-7 (July 2018) . - p.2278-2285 Mots-clés : Autism diagnostic observation schedule  Autism spectrum disorder  Autistic traits  Neurofibromatosis type 1  Prevalence  Social responsiveness scale Index. décimale : PER Périodiques Résumé : In a non-selected sample of children with Neurofibromatosis type 1 (NF1) the prevalence rate of autism spectrum disorder (ASD) and predictive value of an observational (ADOS)-and questionnaire-based screening instrument were assessed. Complete data was available for 128 children. The prevalence rate for clinical ASD was 10.9%, which is clearly higher than in the general population. This prevalence rate is presumably more accurate than in previous studies that examined children with NF1 with an ASD presumption or solely based on screening instruments. The combined observational- and screening based classifications demonstrated the highest positive predictive value for DSM-IV diagnosis, highlighting the importance of using both instruments in children with NF1. En ligne : http://dx.doi.org/10.1007/s10803-018-3478-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=367

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

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