A world without pain or tears*

Axelrod, Felicia B.

doi:10.1007/s10286-006-0326-7

Cited by 27 publications

(28 citation statements)

References 74 publications

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“…BMI was significantly lower in FD patients (20.1 ± 3.2) than in controls (24.9 ± 2.4, p < 0.001). At baseline (before sleep), O 2 saturation was lower in the patients than the controls (96.2 ± 3.7% vs. 98.7 ± 1.2%; p = 0.015), while end-tidal PCO 2 …”

Section: R Esu Lt Smentioning

confidence: 85%

“…None of the FD patients had a central apnea index above 5/h during the total sleep time; only during REM sleep, cAI was above 5/h in one patient, despite reports by previous authors of breath-holding, 2,4,7 irregular breathing during sleep, 8 and wakefulness. 2,5 Weese-Mayer and coworkers monitored respiration in 25 FD patients during wakefulness and sleep by means of a vestlike recording system and found central apneas in 11 patients during wakefulness and in 22 patients during sleep. 5 The system did not monitor airflow and defined respiratory chest and abdominal excursions with paradoxical inward movement of the chest as "potentially" obstructive apneas.…”

Section: Obstructive Apneas Were More Common Than Central Apneas In Omentioning

confidence: 99%

“…[1][2][3] Autonomic insufficiency especially affects cardiovascular and respiratory systems 4 and accounts for manifold autonomic complications including orthostatic hypotension, recumbent hypertension, dysautonomic crises with excessive hypertension, hyperhidrosis, respiratory irregularities, 5 and sudden unexplained death.…”

Section: Introductionmentioning

confidence: 99%

“…5 While obstructive apneas can be treated with continuous positive airway pressure (CPAP), this treatment is less successful in central sleep apneas. 9,10 In FD patients, the pathology with central and peripheral autonomic dysfunction, 2,4,[11][12][13][14][15][16][17][18][19] kyphoscoliosis, 20 and craniofacial abnormalities 21 may give rise to both central and obstructive sleep apneas.…”

Section: Introductionmentioning

confidence: 99%

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

Hilz

Moeller

Buechner

et al. 2016

Journal of Clinical Sleep Medicine

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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. Keywords: familial dysautonomia, hereditary sensory and autonomic neuropathy type III, obstructive sleep apnea, sleep-disordered breathing Citation: Hilz MJ, Moeller S, Buechner S, Czarkowska H, Ayappa I, Axelrod FB, Rapoport DM. Obstructive sleep-disordered breathing is more common than central in mild familial dysautonomia.

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Section: R Esu Lt Smentioning

confidence: 85%

Section: Obstructive Apneas Were More Common Than Central Apneas In Omentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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

Hilz

Moeller

Buechner

et al. 2016

Journal of Clinical Sleep Medicine

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“…The carrier frequency in this population is approximately 1 in 27 for the most common FD mutation, with 99.5% of all cases homozygous for this mutation (2)(3)(4). The clinical spectrum of neurologic sequelae associated with FD includes oropharyngeal incoordination and gastrointestinal dysmotility leading to feeding difficulties and recurrent aspiration, chemoreceptor insensitivity leading to respiratory dysfunction, and the "dysautonomic crisis" manifested by protracted vomiting or retching with cardiovascular and personality changes (5). A prominent manifestation is marked cardiovascular lability that includes postural hypotension without compensatory tachycardia as well as severe supine hypertension.…”

mentioning

confidence: 99%

Renal Transplantation in Familial Dysautonomia

Rekhtman¹,

Bomback²,

Nash³

et al. 2010

Clinical Journal of the American Society of Nephrology

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Background and objectives: Chronic kidney disease (CKD) is an increasingly recognized complication of familial dysautonomia (FD), a neurodevelopmental disorder with protean systemic manifestations that are the result of sensory and autonomic dysfunction. Progressive renal dysfunction occurs due to chronic volume depletion and cardiovascular lability with supine hypertension and orthostatic hypotension. By age 25, nearly one-half of all patients with FD will have reached stage 3 CKD. Furthermore, dialysis for ESRD in FD patients is associated with multiple complications and poor outcomes.Design, settings, participants, & measurements: We report two patients with FD who developed ESRD at ages 27 and 16, respectively, and underwent renal transplantation. Transplant was performed after 3 months on intermittent hemodialysis (HD) in the first case and after 1 month on twice-weekly continuous veno-venous hemodialysis (CVVHD) in the second case.Results: Both patients tolerated surgery well and have maintained good graft function at 20 and 24 months posttransplantation, respectively. Symptomatic and functional improvements have included lower supine BP and increased sensitivity to antihypertensive agents.Conclusions: As general supportive care improves the lifespan of FD patients, issues related to the management of ESRD will become more important. Renal transplantation provides a viable alternative to dialysis for FD patients with ESRD.

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Familial dysautonomia: Frequent, prolonged and severe hypoxemia during wakefulness and sleep

Weese‐Mayer

Kenny

Bennett

et al. 2008

Pediatric Pulmonology

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Sudden unexplained deaths have been reported in 13% [corrected] of Familial Dysautonomia (FD) subjects. To characterize cardiorespiratory dysregulation in children with FD that might contribute to potential sudden death, respiratory inductance plethysmography (chest/abdomen), ECG, hemoglobin saturation, and pulse waveform (VivoMetrics, Inc.) were recorded in the home during daytime wakefulness and overnight sleep in 25 children with IKBKAP mutation-confirmed FD and 25 age-, and gender-matched controls. Breath-to-breath and beat-to-beat characterization of breathing, hemoglobin saturation, and heart rate was conducted. Children with FD had more frequent, prolonged, and severe episodes of hypoxemia than matched controls, awake and asleep. Though a small percent of the study time revealed bradycardia and apnea, the hypoxemia was the most prevalent pattern in FD and rarely occurred with related bradycardia. Though infrequent with desaturation or bradycardia, apnea was more prevalent in FD subjects than controls, and more apparent during sleep than wakefulness. Children with FD have cardiorespiratory dysregulation during wakefulness and sleep, likely representing alveolar hypoventilation. We hypothesize that the related repeated hypoxemia (and presumed related hypercarbia) may render individuals with FD more vulnerable to sudden death.

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A world without pain or tears*

Cited by 27 publications

References 74 publications

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

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

Renal Transplantation in Familial Dysautonomia

Familial dysautonomia: Frequent, prolonged and severe hypoxemia during wakefulness and sleep

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