![]() Her typical sleep patterns included going to sleep at 4pm and waking up at 6am. In non-conclusive MSLT cases, a low or deficient CSF hypocretin can aid in diagnosis.Ī 12-year-old African-American female presented with a complaint of ES (Epworth Sleepiness Scale ESS = 15), with an onset of about two years prior to her initial evaluation. In narcoleptic individuals, an average sleep onset in the 5 naps of less than 8 minutes is expected signifying ES. Aside from the clinical presentation, a confirmation by the presence of two sleep onset REM (SOREMs) on multiple sleep latency test (MSLT) is required. Cases associated with sudden loss of muscle tone in the setting of strong emotions (i.e., cataplexy) are type 1, while lack of cataplexy is termed type 2. Narcolepsy is a disorder characterized by excessive daytime sleepiness (ES), involuntary sleep attacks due to rapid eye movement (REM) intrusion, sleep paralysis and hypnagogic or hypnopompic hallucinations. Primary hypersomnia or narcolepsy was found in 21.3% of the population 7. Other comorbid sleep disorders in this population include periodic limb movement disorder and circadian rhythm sleep disorders. Due to the associated cartilaginous defects, laryngo-tracheomalacia, chest deformities, scoliosis, dilated aorta causing tracheal compression, and vocal cord abnormalities, a higher prevalence of OSA is expected 4, 5, 6. Due to joint involvement, pain might interrupt sleep causing insomnia. ![]() ![]() Sleep disorders are very common in the EDS population ranging from insomnia to obstructive sleep apnea (OSA). However, other hyperflexibility disorders such as Marfan’s and osteogenesis imperfecta should be excluded. If four or more points are detected, the scale is considered positive. A 9-point Brighton scale has been used to aid in diagnosis of EDS. Excessive daytime sleepiness (ES), fatigue, and other sleep disturbances are frequently reported by patients with Ehlers Danlos Syndrome 2, 3, 4. Other associated abnormalities include psychiatric, cardiac, and gastrointestinal concerns. Its multi-systematic effects are due to abnormal mutation of the connective tissue impacting skin (i.e., hyperextensibility), blood vessels, and joints (i.e., hyperflexible joints) 1. Ehlers Danlos Syndrome (EDS) is a genetic disorder occurring in 1 in 5000 births, with predominance in females.
0 Comments
Leave a Reply. |