Authors:
Fehr S, Leonard H, Ho G, Williams S, de Klerk NH, Forbes D,...Downs, J.
Authors notes:
Journal of Neurodevelopmental Disorders. 2015;7(1):2.
Keywords:
CDKL5 disorder, Developmental disabilities, Epileptic encephalopathy, Early infantile epileptic encephalopathy, CDKL5
Abstract:
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.
RESULTS:The study included 109 females and 18 males.
By 5years 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 1year 3months.
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.