Obstructive Sleep-Disordered Breathing Is More Common than Central in Mild Familial Dysautonomia.

STUDY OBJECTIVES: In familial dysautonomia (FD) patients, sleep-disordered breathing (SDB) might contribute to their high risk of sleep-related sudden death. Prevalence of central versus obstructive sleep apneas is controversial but may be therapeutically relevant. We, therefore, assessed sleep structure and SDB in FD-patients with no history of SDB. METHODS: 11 mildly affected FD-patients (28 ± 11 years) without clinically overt SDB and 13 controls (28 ± 10 years) underwent polysomnographic recording during one night. We assessed sleep stages, obstructive and central apneas (≥ 90% air flow reduction) and hypopneas (> 30% decrease in airflow with ≥ 4% oxygen-desaturation), and determined obstructive (oAI) and central (cAI) apnea indices and the hypopnea index (HI) as count of respective apneas/hypopneas divided by sleep time. We obtained the apnea-hypopnea index (AHI4%) from the total of apneas and hypopneas divided by sleep time. We determined differences between FD-patients and controls using the U-test and within-group differences between oAIs, cAIs, and HIs using the Friedman test and Wilcoxon test. RESULTS: Sleep structure was similar in FD-patients and controls. AHI4% and HI were significantly higher in patients than controls. In patients, HIs were higher than oAIs and oAIs were higher than cAIs. In controls, there was no difference between HIs, oAIs, and cAIs. Only patients had apneas and hypopneas during slow wave sleep. CONCLUSIONS: In our FD-patients, obstructive apneas were more common than central apneas. These findings may be related to FD-specific pathophysiology. The potential ramifications of SDB in FD-patients suggest the utility of polysomnography to unveil SDB and initiate treatment. COMMENTARY: A commentary on this article appears in this issue on page 1583.

Cardiac responses to orthostatic stress deteriorate in Parkinson disease patients who begin to fall.

BACKGROUND AND PURPOSE: It is not clear how cardiovascular autonomic nervous system dysfunction can affect falls in Parkinson disease (PD) patients. The aim of the study was to evaluate cardiovascular autonomic responses to orthostatic stress and occurrence of falls in PD patients over a period of 1-2 years. MATERIAL AND METHODS: In 53 patients, who either experienced at least one fall during 12 months preceding the study onset (fallers) or did not fall (non-fallers), we monitored RR intervals (RRI), heart rate (HR) and systolic (SBP) and diastolic (DBP) blood pressure, and calculated the coefficient of variation of RRI (RRI-CoV) and the ratio of low to high frequency spectral powers of RRI oscillations (LF/HF) at rest and upon tilting at study entry and after at least 12 months. Based on the number of falls at study closure, we identified three subgroups: non-fallers, chronic fallers, and new fallers. RESULTS: At study entry, RR-CoV, SBP, or DBP did not differ between fallers and non-fallers, while LF/HF ratios were lower in fallers than non-fallers at rest and upon tilting. After the follow-up period, HR and RRI-CoV responses to head-up tilt were reduced in new fallers as compared to study entry, whereas these variables remained unchanged during the study in non-fallers and chronic fallers. Prevalence of orthostatic hypotension did not differ between subgroups of patients. CONCLUSIONS: Cardiac responses to orthostatic stress deteriorate in PD patients who begin to fall. Orthostatic blood pressure responses remain unchanged over time and are not associated with falls in PD.