Sudden Unexpected Death During Sleep in Familial Dysautonomia: A Case–Control Study

Palma, Jose‐Alberto; Kaufmann, Horacio; Pérez, Miguel Á.; Spalink, Christy

doi:10.1093/sleep/zsx083

Cited by 27 publications

(23 citation statements)

References 38 publications

(39 reference statements)

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“…Early identification of sleep abnormalities in patients with FD is key as treatment of SDB with non-invasive ventilation has been reported to reduce the risk of sudden unexpected death during sleep in this population. 10 …”

Section: Discussionmentioning

confidence: 99%

“…1,10 We recently reported that untreated sleep-disordered breathing (SDB) increases the risk of sudden unexpected death during sleep in patients with FD. 10 Therefore, identification and treatment of SDB is important to prevent premature death in this population. 1,6,10 …”

Section: Introductionmentioning

confidence: 99%

“…10 Therefore, identification and treatment of SDB is important to prevent premature death in this population. 1,6,10 …”

Section: Introductionmentioning

confidence: 99%

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Prevalence and characteristics of sleep-disordered breathing in familial dysautonomia

et al. 2018

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Objective Familial dysautonomia (FD) is an autosomal recessive disorder characterized by impaired development of sensory and afferent autonomic nerves. Untreated sleep-disordered breathing (SDB) has been reported to increase the risk of sudden unexpected death in FD. We aimed to describe the prevalence and characteristics of SDB in FD. Patients/Methods Seventy-five patients with FD (20 adults and 55 children) underwent in-lab polysomnography, including peripheral capillary oxygen saturation (SpO2) and end-tidal capnography (EtCO2) measurements. A t-test and Spearman’s correlation analysis were performed to evaluate the impact of age on sleep, occurrence of apneas, SpO2 and EtCO2 levels; and to determine the relationship between apneas and SpO2/EtCO2 measurements during different sleep stages. Results Overall, 85% of adults and 91% of pediatric patients had some degree of SDB. Obstructive sleep apneas were more severe in adults (8.5 events/h in adults vs. 3.5 events/h in children, p=0.04), whereas central apneas were more severe (10.8 vs. 2.8 events/h, p=0.04) and frequent (61.8% vs. 45%, p=0.017) in children. Overall, a higher apnea–hypopnea index was associated with increased severity of hypoxia and hypoventilation, although in a significant fraction of patients (67% and 46%), hypoxemia and hypoventilation occurred independent of apneas. Conclusion Most adult and pediatric patients with FD suffer from some degree of SDB. There was a differential effect of age in the pattern of SDB observed. In some FD patients, hypoventilation and hypoxia occurred independently of apneas. Therefore, we recommend including EtCO2 monitoring during polysomnography in all patients with FD to detect SDB.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Prevalence and characteristics of sleep-disordered breathing in familial dysautonomia

et al. 2018

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“…Patients have varying degrees of upper airway obstruction (83%), lower airway disease (85%), and restrictive lung disease (94%) (NYU FD Registry 2016). Approximately 85% of adults and 91% of pediatric patients [15] have some degree of sleep-disordered breathing which, when untreated, is a risk factor for sudden unexpected death during sleep (SUDS), a leading cause of death in FD [13]. …”

Section: Epidemiology Of Respiratory Disorders In Fdmentioning

confidence: 99%

“…Hallmarks of FD include impaired pain and temperature sensation, reduced basal tear production [4], absent deep tendon reflexes, optic neuropathy [5], gait ataxia [6], blood pressure instability owing to afferent baroreflex failure [7-9], neurogenic dysphagia [10], chemoreflex failure [11, 12], sleep-disordered breathing [13-15], and chronic lung disease [16], all which contribute to morbidity and mortality [3, 13]. Respiratory disease remains one of the leading causes of death in patients with FD [3].…”

Section: Introductionmentioning

confidence: 99%

Respiratory care in familial dysautonomia: Systematic review and expert consensus recommendations

Kazachkov

Palma

Norcliffe‐Kaufmann

et al. 2018

Respiratory Medicine

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Background Familial dysautonomia (Riley-Day syndrome, hereditary sensory autonomic neuropathy type-III) is a rare genetic disease caused by impaired development of sensory and afferent autonomic nerves. As a consequence, patients develop neurogenic dysphagia with frequent aspiration, chronic lung disease, and chemoreflex failure leading to severe sleep disordered breathing. The purpose of these guidelines is to provide recommendations for the diagnosis and treatment of respiratory disorders in familial dysautonomia. Methods We performed a systematic review to summarize the evidence related to our questions. When evidence was not sufficient, we used data from the New York University Familial Dysautonomia Patient Registry, a database containing ongoing prospective comprehensive clinical data from 670 cases. The evidence was summarized and discussed by a multidisciplinary panel of experts. Evidence-based and expert recommendations were then formulated, written, and graded using the Grading of Recommendations, Assessment, Development, and Evaluation (GRADE) system. Results Recommendations were formulated for or against specific diagnostic tests and clinical interventions. Diagnostic tests reviewed included radiological evaluation, dysphagia evaluation, gastroesophageal evaluation, bronchoscopy and bronchoalveolar lavage, pulmonary function tests, laryngoscopy and polysomnography. Clinical interventions and therapies reviewed included prevention and management of aspiration, airway mucus clearance and chest physical therapy, viral respiratory infections, precautions during high altitude or air-flight travel, noninvasive ventilation during sleep, antibiotic therapy, steroid therapy, oxygen therapy, gastrostomy tube placement, Nissen fundoplication surgery, scoliosis surgery, tracheostomy and lung lobectomy. Conclusions Expert recommendations for the diagnosis and management of respiratory disease in patients with familial dysautonomia are provided. Frequent reassessment and updating will be needed.

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Familial Dysautonomia

Palma¹,

Kaufmann²

2021

Autonomic Nervous System and Sleep

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Sudden Unexpected Death During Sleep in Familial Dysautonomia: A Case–Control Study

Cited by 27 publications

References 38 publications

Prevalence and characteristics of sleep-disordered breathing in familial dysautonomia

Prevalence and characteristics of sleep-disordered breathing in familial dysautonomia

Respiratory care in familial dysautonomia: Systematic review and expert consensus recommendations

Familial Dysautonomia

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