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 et/ou numérique 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 et/ou numérique] / 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

Attention and motor deficits index non-specific background liabilities that predict autism recurrence in siblings / Sabine E. MOUS in Journal of Neurodevelopmental Disorders, 9-1 (December 2017)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 9-1 (December 2017) . - p.32 Titre : Attention and motor deficits index non-specific background liabilities that predict autism recurrence in siblings Type de document : Texte imprimé et/ou numérique Auteurs : Sabine E. MOUS, Auteur ; A. JIANG, Auteur ; Arpana AGRAWAL, Auteur ; John N. CONSTANTINO, Auteur Article en page(s) : p.32 Langues : Anglais (eng) Mots-clés : Adhd  Autism  Family studies  Motor coordination  Sibling recurrence Index. décimale : PER Périodiques Résumé : BACKGROUND: Recent research has demonstrated that subclinical autistic traits of parents amplify the effects of deleterious mutations in the causation of autism spectrum disorder (ASD) in their offspring. Here, we examined the extent to which two neurodevelopmental traits that are non-specific to ASD-inattention/hyperactivity and motor coordination-might contribute to ASD recurrence in siblings of ASD probands. METHODS: Data from a quantitative trait study of 114 ASD probands and their brothers, 26% of whom also had ASD, were analyzed. Autistic trait severity was ascertained using the Social Responsiveness Scale-2, attention/hyperactivity problems using the Achenbach System of Empirically Based Assessment, and motor coordination (in a subset of participants) using the Developmental Coordination Disorder Questionnaire. RESULTS: Among siblings (affected and unaffected), both categorical recurrence of ASD (Nagelkerke R (2) = 0.53) and quantitative ASD trait burden (R (2) = 0.55) were predicted by sibling ADHD and motor coordination impairment scores, even though these traits, on average, were not elevated among the unaffected siblings. CONCLUSIONS: These findings in a clinical family cohort confirm observations from general population studies that inattention/hyperactivity and motor impairment-axes of behavioral development that are non-specific to ASD, and often appreciable before ASD is typically diagnosed-jointly account for over 50% of the variation in autistic impairment of siblings, whether ascertained quantitatively or categorically. This finding within a sibling design suggests that background ASD susceptibilities that are inherited but non-specific ("BASINS") may contribute to additive genetic liability in the same manner that ASD-specific susceptibilities (such as parental subclinical ASD traits and deleterious mutations) engender ASD risk. En ligne : http://dx.doi.org/10.1186/s11689-017-9212-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=350 [article] Attention and motor deficits index non-specific background liabilities that predict autism recurrence in siblings [Texte imprimé et/ou numérique] / Sabine E. MOUS, Auteur ; A. JIANG, Auteur ; Arpana AGRAWAL, Auteur ; John N. CONSTANTINO, Auteur . - p.32. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 9-1 (December 2017) . - p.32 Mots-clés : Adhd  Autism  Family studies  Motor coordination  Sibling recurrence Index. décimale : PER Périodiques Résumé : BACKGROUND: Recent research has demonstrated that subclinical autistic traits of parents amplify the effects of deleterious mutations in the causation of autism spectrum disorder (ASD) in their offspring. Here, we examined the extent to which two neurodevelopmental traits that are non-specific to ASD-inattention/hyperactivity and motor coordination-might contribute to ASD recurrence in siblings of ASD probands. METHODS: Data from a quantitative trait study of 114 ASD probands and their brothers, 26% of whom also had ASD, were analyzed. Autistic trait severity was ascertained using the Social Responsiveness Scale-2, attention/hyperactivity problems using the Achenbach System of Empirically Based Assessment, and motor coordination (in a subset of participants) using the Developmental Coordination Disorder Questionnaire. RESULTS: Among siblings (affected and unaffected), both categorical recurrence of ASD (Nagelkerke R (2) = 0.53) and quantitative ASD trait burden (R (2) = 0.55) were predicted by sibling ADHD and motor coordination impairment scores, even though these traits, on average, were not elevated among the unaffected siblings. CONCLUSIONS: These findings in a clinical family cohort confirm observations from general population studies that inattention/hyperactivity and motor impairment-axes of behavioral development that are non-specific to ASD, and often appreciable before ASD is typically diagnosed-jointly account for over 50% of the variation in autistic impairment of siblings, whether ascertained quantitatively or categorically. This finding within a sibling design suggests that background ASD susceptibilities that are inherited but non-specific ("BASINS") may contribute to additive genetic liability in the same manner that ASD-specific susceptibilities (such as parental subclinical ASD traits and deleterious mutations) engender ASD risk. En ligne : http://dx.doi.org/10.1186/s11689-017-9212-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=350

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 et/ou numérique Auteurs : S. EIJK, Auteur ; Sabine E. MOUS, Auteur ; G. C. DIELEMAN, Auteur ; Bram DIERCKX, Auteur ; A. B. RIETMAN, Auteur ; P. F. A. DE NIJS, Auteur ; L. W. TEN HOOPEN, Auteur ; R. VAN MINKELEN, Auteur ; Y. ELGERSMA, Auteur ; Coriene E. CATSMAN-BERREVOETS, Auteur ; R. 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 et/ou numérique] / S. EIJK, Auteur ; Sabine E. MOUS, Auteur ; G. C. DIELEMAN, Auteur ; Bram DIERCKX, Auteur ; A. B. RIETMAN, Auteur ; P. F. A. DE NIJS, Auteur ; L. W. TEN HOOPEN, Auteur ; R. VAN MINKELEN, Auteur ; Y. ELGERSMA, Auteur ; Coriene E. CATSMAN-BERREVOETS, Auteur ; R. 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

Growing up with Fragile X Syndrome: Concerns and Care Needs of Young Adult Patients and Their Parents / M. C. VAN REMMERDEN in Journal of Autism and Developmental Disorders, 50-6 (June 2020)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 50-6 (June 2020) . - p.2174-2187 Titre : Growing up with Fragile X Syndrome: Concerns and Care Needs of Young Adult Patients and Their Parents Type de document : Texte imprimé et/ou numérique Auteurs : M. C. VAN REMMERDEN, Auteur ; L. HOOGLAND, Auteur ; Sabine E. MOUS, Auteur ; Bram DIERCKX, Auteur ; M. COESMANS, Auteur ; H. A. MOLL, Auteur ; K. LUBBERS, Auteur ; C. R. LINCKEN, Auteur ; A. M. VAN EEGHEN, Auteur Article en page(s) : p.2174-2187 Langues : Anglais (eng) Mots-clés : Fragile X syndrome (FXS)  ICF classification  Intellectual disability  Neurodevelopmental disorders  Qualitative research  Transition Index. décimale : PER Périodiques Résumé : Little is known about care needs of young adults with Fragile X Syndrome (FXS). Patient-driven information is needed to improve understanding and support of young adults with FXS. A qualitative study was performed in 5 young adult patients (aged 18-30), and 33 parents of young adults. Concerns and care needs were categorized using the International Classification of Functioning, Disability, and Health. Results indicated concerns on 14 domains for males, and 13 domains for females, including physical, psychological and socio-economical issues. In both groups parents reported high stress levels and a lack of knowledge of FXS in adult care providers. This study revealed concerns on various domains, requiring gender-specific, multidisciplinary transitional care and adult follow-up for patients with FXS. En ligne : http://dx.doi.org/10.1007/s10803-019-03973-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=425 [article] Growing up with Fragile X Syndrome: Concerns and Care Needs of Young Adult Patients and Their Parents [Texte imprimé et/ou numérique] / M. C. VAN REMMERDEN, Auteur ; L. HOOGLAND, Auteur ; Sabine E. MOUS, Auteur ; Bram DIERCKX, Auteur ; M. COESMANS, Auteur ; H. A. MOLL, Auteur ; K. LUBBERS, Auteur ; C. R. LINCKEN, Auteur ; A. M. VAN EEGHEN, Auteur . - p.2174-2187. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 50-6 (June 2020) . - p.2174-2187 Mots-clés : Fragile X syndrome (FXS)  ICF classification  Intellectual disability  Neurodevelopmental disorders  Qualitative research  Transition Index. décimale : PER Périodiques Résumé : Little is known about care needs of young adults with Fragile X Syndrome (FXS). Patient-driven information is needed to improve understanding and support of young adults with FXS. A qualitative study was performed in 5 young adult patients (aged 18-30), and 33 parents of young adults. Concerns and care needs were categorized using the International Classification of Functioning, Disability, and Health. Results indicated concerns on 14 domains for males, and 13 domains for females, including physical, psychological and socio-economical issues. In both groups parents reported high stress levels and a lack of knowledge of FXS in adult care providers. This study revealed concerns on various domains, requiring gender-specific, multidisciplinary transitional care and adult follow-up for patients with FXS. En ligne : http://dx.doi.org/10.1007/s10803-019-03973-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=425

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