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

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

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

---

1 (1 - 3 / 3) Par page : 25 50 100 200