[article]
| Titre : |
There is variability in the attainment of developmental milestones in the CDKL5 disorder |
| Type de document : |
texte imprimé |
| Auteurs : |
S. FEHR, Auteur ; H. LEONARD, Auteur ; G. HO, Auteur ; S. WILLIAMS, Auteur ; Nick 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] / S. FEHR, Auteur ; H. LEONARD, Auteur ; G. HO, Auteur ; S. WILLIAMS, Auteur ; Nick 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 |
|  |
There is variability in the attainment of developmental milestones in the CDKL5 disorder in Journal of Neurodevelopmental Disorders, 7-1 (December 2015)
