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Published on: December 6, 2016
Long time polysomnographic sleep and breathing evaluations in children with CDKL5 deficiency disorder
Eveline E O Hagebeuk1, Annelies Smits2, Al de Weerd3
1Stichting Epilepsie Instellingen Nederland (SEIN), Achterweg 3, 2103 SW, Heemstede, the Netherlands.
Insights
Sleep disturbances, including prolonged sleep latency and low efficiency, persist in children with CDKL5 deficiency disorder (CDD) over time. These persistent sleep issues in CDD patients highlight the need for effective treatment strategies.
Area of Science:
- Pediatric Neurology
- Sleep Medicine
- Genetics
Background:
- CDKL5 deficiency disorder (CDD) is a severe neurodevelopmental disorder characterized by early-onset epilepsy.
- Sleep and breathing disturbances are common in children with CDD, significantly impacting quality of life for patients and caregivers.
- The long-term outcomes of these sleep and respiratory issues in CDD are not well understood.
Purpose of the Study:
- To evaluate the persistence and changes in sleep and respiratory function over a 5-10 year period in a cohort of Dutch children with CDD.
- To assess if sleep disturbances and breathing issues remain consistent or evolve in individuals with CDD over time.
Main Methods:
- Retrospective evaluation of sleep and respiratory function in a small cohort of Dutch children diagnosed with CDD.
- Utilized video-EEG and polysomnography (PSG) over 3x24 hour periods.
- Employed the Sleep Disturbance Scale for Children (SDSC) parental questionnaire for comprehensive assessment.
Main Results:
- Sleep disturbances were persistent in all evaluated individuals with CDD over the 5.5-10 year follow-up period.
- Key findings include prolonged sleep latency, frequent arousals, low sleep efficiency, and short total sleep time, with no improvement over time.
- Reduced REM sleep duration persisted, and sporadic central apneas during wakefulness were observed in some participants.
Conclusions:
- Sleep disturbances are a chronic and enduring feature of CDKL5 deficiency disorder.
- Persistent sleep issues, particularly decreased REM sleep and breathing irregularities, may suggest underlying brainstem dysfunction in CDD.
- Effective management strategies for sleep problems in CDD are crucial due to their significant impact on patient and caregiver well-being.
Study Objectives:
CDKL5 deficiency disorder (CDD) is a rare developmental and epileptic encephalopathy, developing in the first months of life, caused by a mutation in the cyclin-dependent kinase-like 5 (CDKL5) gene. Children with CDD often have sleep (90%) and breathing disorders in wake (50%). Sleep disorders may have a significant impact emotional wellbeing and quality of life of caregivers of children with CDD and are challenging to treat. The outcomes of these features are unknown in children with CDD.
Methods:
We retrospectively evaluated sleep and respiratory function changes over 5-10 years in a small cohort of Dutch children with CDD, using video-EEG and/or polysomnography (3 × 24 h) and a parental questionnaire, the Sleep Disturbance Scale for Children (SDSC). The present study is a follow-up sleep and PSG study to evaluate if sleep and breathing disturbances persist in children with CDD previously studied.
Results:
Sleep disturbances persisted during the study period (5.5-10 years). All five individuals had long sleep latency (SL, range 32-174.5 min) and frequent arousals and awakenings (14-50/night), unrelated to apneas/seizures, corresponding to the SDSC findings. Low sleep efficiency (SE, 41-80%) was present and did not improve. In our participants, total sleep time (TST, 3h52min-7h52min) was short and remained so. Time in bed (TIB) was typical for children aged 2-8 years, but did not adjust with ageing. Low duration (4.8-17.4%) or even absent REM sleep persisted over time. No sleep apneas were noted. Central apneas due to episodic hyperventilation were reported during wakefulness in two of the five.
Conclusion:
Sleep disturbances were present and persisted in all. The decreased REM sleep and sporadic breathing disturbances in wake may indicate failure of brainstem nuclei. Sleep disturbances can severely affect the emotional wellbeing and quality of life of the caregivers and the individuals with CDD and are challenging to treat. Hopefully our polysomnographic sleep data contribute to find the optimal treatment of the sleep problems in CDD patients.
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