There is variability in the attainment of developmental milestones in the CDKL5 disorder
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 associat...
| Main Authors: | , , , , , , , |
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| Format: | Journal Article |
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BioMed Central Ltd
2015
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| Online Access: | http://hdl.handle.net/20.500.11937/43552 |
| _version_ | 1848756728415387648 |
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| author | Fehr, S. Leonard, H. Ho, G. Williams, S. de Klerk, N. Forbes, D. Christodoulou, J. Downs, Jennepher |
| author_facet | Fehr, S. Leonard, H. Ho, G. Williams, S. de Klerk, N. Forbes, D. Christodoulou, J. Downs, Jennepher |
| author_sort | Fehr, S. |
| building | Curtin Institutional Repository |
| collection | Online Access |
| description | 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. |
| first_indexed | 2025-11-14T09:16:48Z |
| format | Journal Article |
| id | curtin-20.500.11937-43552 |
| institution | Curtin University Malaysia |
| institution_category | Local University |
| last_indexed | 2025-11-14T09:16:48Z |
| publishDate | 2015 |
| publisher | BioMed Central Ltd |
| recordtype | eprints |
| repository_type | Digital Repository |
| spelling | curtin-20.500.11937-435522017-09-13T13:37:33Z There is variability in the attainment of developmental milestones in the CDKL5 disorder Fehr, S. Leonard, H. Ho, G. Williams, S. de Klerk, N. Forbes, D. Christodoulou, J. Downs, Jennepher CDKL5 disorder Early infantile epileptic encephalopathy Epileptic encephalopathy Developmental disabilities 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. 2015 Journal Article http://hdl.handle.net/20.500.11937/43552 10.1186/1866-1955-7-2 BioMed Central Ltd fulltext |
| spellingShingle | CDKL5 disorder Early infantile epileptic encephalopathy Epileptic encephalopathy Developmental disabilities Fehr, S. Leonard, H. Ho, G. Williams, S. de Klerk, N. Forbes, D. Christodoulou, J. Downs, Jennepher There is variability in the attainment of developmental milestones in the CDKL5 disorder |
| title | There is variability in the attainment of developmental milestones in the CDKL5 disorder |
| title_full | There is variability in the attainment of developmental milestones in the CDKL5 disorder |
| title_fullStr | There is variability in the attainment of developmental milestones in the CDKL5 disorder |
| title_full_unstemmed | There is variability in the attainment of developmental milestones in the CDKL5 disorder |
| title_short | There is variability in the attainment of developmental milestones in the CDKL5 disorder |
| title_sort | there is variability in the attainment of developmental milestones in the cdkl5 disorder |
| topic | CDKL5 disorder Early infantile epileptic encephalopathy Epileptic encephalopathy Developmental disabilities |
| url | http://hdl.handle.net/20.500.11937/43552 |