Sleep Disturbances In Wolfram Syndrome
Wolfram syndrome is a Rare Autosomal Recessive disorder that is caused by mutations in the WFS1 or, less commonly, the WFS2 gene. WFS1 encodes an endoplasmic reticulum protein wolframin, which is thought to play a role in protection against ER stress-related apoptosis. The clinical manifestations of Wolfram syndrome can include childhood onset of diabetes mellitus, diabetes insipidus, optic nerve atrophy, hearing and vision loss, motor impairment, and Neurodegeneration.

It is a complex disorder involving Neurodevelopmental, metabolic, urinary, sensory, & other symptoms, many of which could interfere with sleep. The study discussed here provides quantified objective assessment of sleep dysfunction in Wolfram syndrome. The patients in this study had a high rate of sleep-disordered breathing, particularly Obstructive Sleep Apnea(OSA).

The Epworth Sleepiness Scale (ESS) and Pittsburgh Sleep Quality Index (PSQI) and the Pediatric Sleep Questionnaire (PSQ) were used for this study.

Adults with type 1 diabetes (T1DM) have been shown to have a relatively high prevalence of OSA, even among non-obese adults. Sleep disturbance has also been related to poor glycemic control. Finally, autonomic neuropathy, as seen in diabetes, may affect control of pharyngeal muscles, contributing to increased risk of obstructive sleep apnea.

Hence, addressing sleep disorders in Wolfram syndrome patients would likely improve their overall health and quality of life.

Source: https://ojrd.biomedcentral.com/articles/10.1186/s13023-019-1160-z
1 share
Like
Comment
Share