Sleep Abnormalities in SLC13A5 Citrate Transporter Disorder.

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 pa

SUBMITTER: Adams RM 

PROVIDER: S-EPMC11507356 | biostudies-literature | 2024 Oct

REPOSITORIES: biostudies-literature