![]() The presence or severity of sleep dysfunction could be related to the known regional neuropathology of Wolfram syndrome. Sleep complaints are common in Wolfram syndrome patients and are associated with their overall quality of life, but have not been well-characterized by sleep studies or actigraphy. Understanding the nature of sleep dysfunction in Wolfram syndrome has implications for the health and potentially the longevity of patients. Thus, the natural history of respiratory issues and their severity across the continuum of the disease phenotype is unclear. Now that genetic identification of Wolfram syndrome is possible, it is apparent that the clinical phenotype is broader than previously described. In another series of 68 patients also defined by the clinical manifestations of DIDMOAD, more than 50% of the 23 patients who died had symptoms of significant neurodegeneration, including apneic spells. In a case series of 45 patients with the classic manifestations of diabetes insipidus, diabetes mellitus, optic atrophy, and deafness (DIDMOAD), the median age of death was 30 years (range 25–49 years) and central respiratory failure with brainstem atrophy was noted as a cause. ![]() Ĭlinically defined classic Wolfram syndrome has been associated with a limited lifespan, and causes of death may have included central or obstructive sleep apnea. 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. WFS1 encodes an endoplasmic reticulum protein wolframin, which is thought to play a role in protection against ER stress-related apoptosis. Wolfram syndrome is a rare autosomal recessive disorder that is caused by mutations in the WFS1 or, less commonly, the WFS2 gene. Addressing sleep disorders in Wolfram syndrome patients would likely improve their overall health and quality of life. Further study would be needed to assess how these symptoms change over time. Wolfram syndrome patients had a high rate of OSA. Patients’ scores on the PSQ were higher than those of controls, indicating greater severity of childhood obstructive sleep-related breathing disorders. Higher mixed apnea scores were related to lower brainstem and cerebellar volumes. Higher AHI was related to greater disease severity (higher WURS Physical scores). Five of 17 (29%) adult patients fit the criteria for obstructive sleep apnea (OSA apnea-hypopnea index ≥ 5) and all 4 of 4 (100%) children aged 12 years or younger fit the criteria for obstructive sleep apnea (AHI’s ≥ 1). Twenty-one patients were evaluated ranging from age 8.9–29.7 years. Patients were characterized clinically with the Wolfram Unified Rating Scale (WURS) and a subset underwent magnetic resonance imaging (MRI) for brain volume measurements. ![]() PSQI and PSQ questionnaire data were compared to a previously collected group of controls. Patients wore an actigraphy device and a type III ambulatory sleep study device and completed the Epworth Sleepiness Scale (ESS), the Pittsburgh Sleep Quality Index (PSQI) and/or the Pediatric Sleep Questionnaire (PSQ). Genetically confirmed Wolfram syndrome patients were evaluated at the 20 Washington University Wolfram Syndrome Research Clinics. Our goal was to assess rates of sleep apnea and objective and self-reported measures of sleep quality, and to determine the relationship of sleep pathology to other clinical variables in Wolfram syndrome patients. ![]() Sleep complaints are common but have not been studied with objective measures. Wolfram syndrome is a rare disorder associated with diabetes mellitus, diabetes insipidus, optic nerve atrophy, hearing and vision loss, and neurodegeneration. ![]()
0 Comments
Leave a Reply. |
AuthorWrite something about yourself. No need to be fancy, just an overview. ArchivesCategories |