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10.3390/genes15101338
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Article

Sleep Abnormalities in SLC13A5 Citrate Transporter Disorder

by
Raegan M. Adams
1,
Can Ozlu
2,
Lauren E. Bailey
1,
Rayann M. Solidum
3,
Sydney Cooper
4,
Carrie R. Best
5,6,
Jennifer Elacio
5,
Brian C. Kavanaugh
6,
Tanya L. Brown
7,
Kimberly Nye
7,
Judy Liu
8,
Brenda E. Porter
3,
Kimberly Goodspeed
2 and
Rachel M. Bailey
1,2,*
1
Center for Alzheimer’s and Neurodegenerative Diseases, UT Southwestern Medical Center, Dallas, TX 75390, USA
2
Department of Pediatrics, UT Southwestern Medical Center, Dallas, TX 75390, USA
3
Department of Neurology and Neurological Sciences, Stanford University, Palo Alto, CA 94304, USA
4
Perot Neuroscience Translational Research Center, UT Southwestern Medical Center, Dallas, TX 75390, USA
5
Department of Molecular Biology, Cell Biology and Biochemistry, Brown University, Providence, RI 02912, USA
6
Department of Psychiatry & Human Behavior, Brown University, Providence, RI 02912, USA
7
TESS Research Foundation, Menlo Park, CA 94026, USA
8
Department of Neurology, Brown University, Providence, RI 02912, USA
*
Author to whom correspondence should be addressed.
Genes 2024, 15(10), 1338; https://doi.org/10.3390/genes15101338
Submission received: 13 September 2024 / Revised: 8 October 2024 / Accepted: 10 October 2024 / Published: 18 October 2024
(This article belongs to the Special Issue Feature Papers in Human Genomics and Genetic Diseases 2024)
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Abstract

Background: SLC13A5 Citrate Transporter Disorder is a rare pediatric neurodevelopmental disorder. Patients have epilepsy, developmental disability, and impaired mobility. While sleep disorders are common in children with neurodevelopmental disorders, sleep abnormalities have not been reported in SLC13A5 patients. Methods: Here, we assessed sleep disturbances in patients through caregiver reported surveys and in a transgenic mouse model of SLC13A5 deficiency. A total of 26 patients were evaluated with the Sleep Disturbance Scale for Children three times over a one-year span. Sleep and wake activities were assessed in the SLC13A5 knock-out (KO) mice using wireless telemetry devices. Results: A high burden of clinically significant sleep disturbances were reported in the patients, with heterogeneous symptoms that remained stable across time. While sleep disturbances were common, less than 30% of patients were prescribed medications for sleep. Comparatively, in SLC13A5 KO mice using EEG recordings, significant alterations were found during light cycles, when rodents typically sleep. During the sleep period, SLC13A5 mice had increased activity, decreased paradoxical sleep, and changes in absolute power spectral density, indicating altered sleep architecture in the mouse model. Conclusions: Our results demonstrate a significant component of sleep disturbances in SLC13A5 patients and mice, highlighting a potential gap in patient care. Further investigation of sleep dysfunction and the underlying etiologies of sleep disturbances in SLC13A5 citrate transporter disorder is warranted.
Keywords: SLC13A5; sleep; SDSC; EEG; patients; mice SLC13A5; sleep; SDSC; EEG; patients; mice
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MDPI and ACS Style

Adams, R.M.; Ozlu, C.; Bailey, L.E.; Solidum, R.M.; Cooper, S.; Best, C.R.; Elacio, J.; Kavanaugh, B.C.; Brown, T.L.; Nye, K.; et al. Sleep Abnormalities in SLC13A5 Citrate Transporter Disorder. Genes 2024, 15, 1338. https://doi.org/10.3390/genes15101338

AMA Style

Adams RM, Ozlu C, Bailey LE, Solidum RM, Cooper S, Best CR, Elacio J, Kavanaugh BC, Brown TL, Nye K, et al. Sleep Abnormalities in SLC13A5 Citrate Transporter Disorder. Genes. 2024; 15(10):1338. https://doi.org/10.3390/genes15101338

Chicago/Turabian Style

Adams, Raegan M., Can Ozlu, Lauren E. Bailey, Rayann M. Solidum, Sydney Cooper, Carrie R. Best, Jennifer Elacio, Brian C. Kavanaugh, Tanya L. Brown, Kimberly Nye, and et al. 2024. "Sleep Abnormalities in SLC13A5 Citrate Transporter Disorder" Genes 15, no. 10: 1338. https://doi.org/10.3390/genes15101338

APA Style

Adams, R. M., Ozlu, C., Bailey, L. E., Solidum, R. M., Cooper, S., Best, C. R., Elacio, J., Kavanaugh, B. C., Brown, T. L., Nye, K., Liu, J., Porter, B. E., Goodspeed, K., & Bailey, R. M. (2024). Sleep Abnormalities in SLC13A5 Citrate Transporter Disorder. Genes, 15(10), 1338. https://doi.org/10.3390/genes15101338

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