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Auteur S. FEHR |
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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