Sleep Abnormalities in SLC13A5 Citrate Transporter Disorder
Raegan M Adams1, Can Ozlu2, Lauren E Bailey1
1Center for Alzheimer's and Neurodegenerative Diseases, UT Southwestern Medical Center, Dallas, TX 75390, USA.
Genes
|October 26, 2024
Summary
Sleep disturbances are common in children with SLC13A5 Citrate Transporter Disorder, impacting patients and a mouse model. These findings suggest a need for better diagnosis and care for sleep issues in this rare neurodevelopmental disorder.
Area of Science:
- Neuroscience
- Pediatric Neurology
- Sleep Medicine
Background:
- SLC13A5 Citrate Transporter Disorder is a rare pediatric neurodevelopmental disorder characterized by epilepsy, developmental disability, and impaired mobility.
- Sleep disorders are frequently observed in children with neurodevelopmental disorders, but have not been previously reported in SLC13A5 patients.
Purpose of the Study:
- To investigate the prevalence and characteristics of sleep disturbances in patients with SLC13A5 Citrate Transporter Disorder.
- To assess sleep abnormalities in a transgenic mouse model of SLC13A5 deficiency.
Main Methods:
- Caregiver-reported surveys using the Sleep Disturbance Scale for Children were administered to 26 patients over one year.
- Sleep and wake activities in SLC13A5 knock-out (KO) mice were monitored using wireless telemetry and EEG recordings.
Main Results:
- Patients reported a high burden of clinically significant, heterogeneous sleep disturbances that remained stable over time.
- SLC13A5 KO mice exhibited significant sleep alterations, including increased activity and decreased paradoxical sleep during typical sleep periods, indicating disrupted sleep architecture.
Conclusions:
- The study demonstrates a significant presence of sleep disturbances in both SLC13A5 patients and the mouse model.
- These findings highlight a potential gap in clinical care for SLC13A5 Citrate Transporter Disorder and warrant further investigation into sleep dysfunction.
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