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Détail de l'auteur
Auteur N. DE KLERK |
Documents disponibles écrits par cet auteur (2)
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Diagnosis of Autism Spectrum Disorder According to Maternal-Race Ethnicity and Country of Birth: A Register-Based Study / Ifrah ABDULLAHI in Journal of Autism and Developmental Disorders, 49-9 (September 2019)
[article]
Titre : Diagnosis of Autism Spectrum Disorder According to Maternal-Race Ethnicity and Country of Birth: A Register-Based Study Type de document : Texte imprimé et/ou numérique Auteurs : Ifrah ABDULLAHI, Auteur ; K. WONG, Auteur ; Keely BEBBINGTON, Auteur ; R. MUTCH, Auteur ; N. DE KLERK, Auteur ; S. CHERIAN, Auteur ; J. DOWNS, Auteur ; H. LEONARD, Auteur ; E. J. GLASSON, Auteur Article en page(s) : p.3611-3624 Langues : Anglais (eng) Mots-clés : Autism spectrum disorder Immigrant Intellectual disability Severity Symptomatology Index. décimale : PER Périodiques Résumé : An increased prevalence of autism spectrum disorder (ASD) among children of immigrant backgrounds has been observed but clinical profiles are rarely compared. Diagnostic data from children with ASD notified to the Western Australian Register for Autism Spectrum Disorders were analysed according to maternal-race ethnicity and country of birth. A total of 4776 children aged between 0 and 18 years diagnosed with ASD from 1999 to 2017 were included. Those born to immigrant mothers from lower income countries were younger at the time of diagnosis, had an increased risk of intellectual disability and poorer presentations in the social and communication domains. Further work is required to understand environmental influences that may affect children born to immigrant mothers and to improve monitoring and assessments. En ligne : http://dx.doi.org/10.1007/s10803-019-04068-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=405
in Journal of Autism and Developmental Disorders > 49-9 (September 2019) . - p.3611-3624[article] Diagnosis of Autism Spectrum Disorder According to Maternal-Race Ethnicity and Country of Birth: A Register-Based Study [Texte imprimé et/ou numérique] / Ifrah ABDULLAHI, Auteur ; K. WONG, Auteur ; Keely BEBBINGTON, Auteur ; R. MUTCH, Auteur ; N. DE KLERK, Auteur ; S. CHERIAN, Auteur ; J. DOWNS, Auteur ; H. LEONARD, Auteur ; E. J. GLASSON, Auteur . - p.3611-3624.
Langues : Anglais (eng)
in Journal of Autism and Developmental Disorders > 49-9 (September 2019) . - p.3611-3624
Mots-clés : Autism spectrum disorder Immigrant Intellectual disability Severity Symptomatology Index. décimale : PER Périodiques Résumé : An increased prevalence of autism spectrum disorder (ASD) among children of immigrant backgrounds has been observed but clinical profiles are rarely compared. Diagnostic data from children with ASD notified to the Western Australian Register for Autism Spectrum Disorders were analysed according to maternal-race ethnicity and country of birth. A total of 4776 children aged between 0 and 18 years diagnosed with ASD from 1999 to 2017 were included. Those born to immigrant mothers from lower income countries were younger at the time of diagnosis, had an increased risk of intellectual disability and poorer presentations in the social and communication domains. Further work is required to understand environmental influences that may affect children born to immigrant mothers and to improve monitoring and assessments. En ligne : http://dx.doi.org/10.1007/s10803-019-04068-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=405 There is variability in the attainment of developmental milestones in the CDKL5 disorder / S. FEHR in Journal of Neurodevelopmental Disorders, 7-1 (December 2015)
[article]
Titre : There is variability in the attainment of developmental milestones in the CDKL5 disorder Type de document : Texte imprimé et/ou numérique Auteurs : S. FEHR, Auteur ; H. LEONARD, Auteur ; G. HO, Auteur ; S. WILLIAMS, Auteur ; N. DE KLERK, Auteur ; D. FORBES, Auteur ; J. CHRISTODOULOU, Auteur ; J. DOWNS, Auteur Article en page(s) : p.2 Langues : Anglais (eng) Mots-clés : CDKL5 disorder Developmental disabilities Early infantile epileptic encephalopathy Epileptic encephalopathy Index. décimale : PER Périodiques Résumé : BACKGROUND: Individuals with the CDKL5 disorder have been described as having severely impaired development. A few individuals have been reported having attained more milestones including walking and running. Our aim was to investigate variation in attainment of developmental milestones and associations with underlying genotype. METHODS: Data was sourced from the International CDKL5 Disorder Database, and individuals were included if they had a pathogenic or probably pathogenic CDKL5 mutation and information on early development. Kaplan-Meier time-to-event analyses investigated the occurrence of developmental milestones. Mutations were grouped by their structural/functional consequence, and Cox regression was used to investigate the relationship between genotype and milestone attainment. RESULTS: The study included 109 females and 18 males. By 5 years of age, only 75% of the females had attained independent sitting and 25% independent walking whilst a quarter of the males could sit independently by 1 year 3 months. Only one boy could walk independently. No clear relationship between mutation group and milestone attainment was present, although females with a late truncating mutation attained the most milestones. CONCLUSION: Attainment of developmental milestones is severely impaired in the CDKL5 disorder, with the majority who did attain skills attaining them at a late age. It appears as though males are more severely impaired than the females. Larger studies are needed to further investigate the role of genotype on clinical variability. En ligne : http://dx.doi.org/10.1186/1866-1955-7-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=347
in Journal of Neurodevelopmental Disorders > 7-1 (December 2015) . - p.2[article] There is variability in the attainment of developmental milestones in the CDKL5 disorder [Texte imprimé et/ou numérique] / S. FEHR, Auteur ; H. LEONARD, Auteur ; G. HO, Auteur ; S. WILLIAMS, Auteur ; N. DE KLERK, Auteur ; D. FORBES, Auteur ; J. CHRISTODOULOU, Auteur ; J. DOWNS, Auteur . - p.2.
Langues : Anglais (eng)
in Journal of Neurodevelopmental Disorders > 7-1 (December 2015) . - p.2
Mots-clés : CDKL5 disorder Developmental disabilities Early infantile epileptic encephalopathy Epileptic encephalopathy Index. décimale : PER Périodiques Résumé : BACKGROUND: Individuals with the CDKL5 disorder have been described as having severely impaired development. A few individuals have been reported having attained more milestones including walking and running. Our aim was to investigate variation in attainment of developmental milestones and associations with underlying genotype. METHODS: Data was sourced from the International CDKL5 Disorder Database, and individuals were included if they had a pathogenic or probably pathogenic CDKL5 mutation and information on early development. Kaplan-Meier time-to-event analyses investigated the occurrence of developmental milestones. Mutations were grouped by their structural/functional consequence, and Cox regression was used to investigate the relationship between genotype and milestone attainment. RESULTS: The study included 109 females and 18 males. By 5 years of age, only 75% of the females had attained independent sitting and 25% independent walking whilst a quarter of the males could sit independently by 1 year 3 months. Only one boy could walk independently. No clear relationship between mutation group and milestone attainment was present, although females with a late truncating mutation attained the most milestones. CONCLUSION: Attainment of developmental milestones is severely impaired in the CDKL5 disorder, with the majority who did attain skills attaining them at a late age. It appears as though males are more severely impaired than the females. Larger studies are needed to further investigate the role of genotype on clinical variability. En ligne : http://dx.doi.org/10.1186/1866-1955-7-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=347