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J Neurodev Disord. 2015;7(1):2. doi: 10.1186/1866-1955-7-2. Epub 2015 Jan 5.

There is variability in the attainment of developmental milestones in the CDKL5 disorder.

Author information

1
Telethon Kids Institute, University of Western Australia, Perth, Western Australia Australia.
2
Western Sydney Genetics Program, Children's Hospital at Westmead, Sydney, NSW Australia.
3
Department of Neurology and Rehabilitation, Princess Margaret Hospital, Perth, Western Australia Australia.
4
School of Paediatrics and Child Health, University of Western Australia, Perth, Western Australia Australia.
5
Western Sydney Genetics Program, Children's Hospital at Westmead, Sydney, NSW Australia ; Disciplines of Paediatrics & Child Health and Genetic Medicine, University of Sydney, Sydney, NSW Australia.
6
Telethon Kids Institute, University of Western Australia, Perth, Western Australia Australia ; School of Physiotherapy and Exercise Science, Curtin University, Perth, Western Australia Australia.

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.

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.

KEYWORDS:

CDKL5 disorder; Developmental disabilities; Early infantile epileptic encephalopathy; Epileptic encephalopathy

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