Abstract
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.
| Original language | English |
|---|---|
| Pages (from-to) | 1-13 |
| Journal | Journal of Neurodevelopmental Disorders |
| Volume | 7 |
| Issue number | 2 |
| DOIs | |
| Publication status | Published - 5 Jan 2015 |
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There is variability in the attainment of developmental milestones in the CDKL5 disorder. / Fehr, Stephanie; Leonard, Helen; Ho, G; Williams, S; De Klerk, Nicholas; Forbes, David; Christodoulou, J; Downs, Jennepher.
In: Journal of Neurodevelopmental Disorders, Vol. 7, No. 2, 05.01.2015, p. 1-13.Research output: Contribution to journal › Article
TY - JOUR
T1 - There is variability in the attainment of developmental milestones in the CDKL5 disorder
AU - Fehr, Stephanie
AU - Leonard, Helen
AU - Ho, G
AU - Williams, S
AU - De Klerk, Nicholas
AU - Forbes, David
AU - Christodoulou, J
AU - Downs, Jennepher
PY - 2015/1/5
Y1 - 2015/1/5
N2 - BackgroundIndividuals 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.MethodsData 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.ResultsThe 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.ConclusionAttainment 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.
AB - BackgroundIndividuals 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.MethodsData 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.ResultsThe 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.ConclusionAttainment 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.
U2 - 10.1186/1866-1955-7-2
DO - 10.1186/1866-1955-7-2
M3 - Article
VL - 7
SP - 1
EP - 13
JO - Journal of Neurodevelopmental Disorders
JF - Journal of Neurodevelopmental Disorders
SN - 1866-1947
IS - 2
ER -