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.

Introduction/Aims: Data on respiratory, feeding, ambulatory outcomes and prognostic factors for congenital myopathies (CM) and congenital muscular dystrophies (CMD) remain limited. Therefore, in this study, we report the characteristics of a large single‐center cohort of patients with CM and CMD, focusing on long‐term outcomes and aiming to identify factors associated with invasive ventilation, feeding tube, and wheelchair dependence. Methods: Patients with a diagnosis of CM or CMD evaluated at Children's Health Dallas between 2011 and 2024 were identified using ICD codes and their medical records were reviewed. Genetic, clinical, histopathologic, electrodiagnostic, imaging and laboratory data were collected. Results: There were 145 patients, with the most common genes being RYR1 (29), COL6A1/2/3 (16), MTM1 (16), TTN (15), LAMA2 (14), NEB (12). Of 128 patients above 3 years old, 65 (51%) were ambulatory. Thirty‐three of 145 (23%) required invasive ventilation and 50 of 145 (34%) had a feeding tube. The causative gene significantly correlated with ventilation (Cramer's V 0.46, moderate effect, p < 0.001) and feeding tube (Cramer's V 0.48, moderate effect, p < 0.001) dependence, whereas contractures in multiple joints correlated with wheelchair dependence across the cohort (Cramer's V 0.58, large effect, p < 0.001). Discussion: In this study, the causative gene was the major driver of ventilation and feeding support whereas multiple joint contractures correlated with wheelchair dependence. These results may help guide clinicians in counseling families on respiratory, feeding and ambulatory outcomes; however, prospective multicenter studies are needed to confirm the findings and identify additional prognostic factors.