Obstructive Sleep Apnea-Hypopnea Syndrome in Children: Beyond Adenotonsillar Hypertrophy

Childhood obstructive sleep apnea syndrome (OSAS) is characterized by anatomical and functional upper airway abnormalities as pathophysiological determinants, and clinical symptoms are frequently clear. OSAS is widely described in rare genetic disorders, such as achondroplasia, Down syndrome, Prader-Willi syndrome, Pierre Robin sequence, and mucopolysaccharidosis. Craniofacial and upper airway involvement is frequently morbid conditions. In children with genetic diseases, the clinical symptoms of OSAS are often slight or absent, and related morbidities are usually more severe and can be observed at any age. The present review is aimed to updating the discoveries regarding OSAS on Achondroplasia, Down syndrome, Prader-Willi syndrome, Pierre Robin sequence, Sickle cell disease, or encountered in our clinical practice (Ehlers-Danlos syndrome, Ellis-van Creveld syndrome, Noonan syndrome). Two additional groups of genetic disorders will be focused (mucopolysaccharidoses and osteogenesis imperfecta). The flowing items are covered for each disease: (I) what is the pathophysiology of OSAS? (II) What is the incidence/prevalence of OSAS? (III) What result from the management and prognosis? (IV) What are the recommendations? Considering the worries of OSAS, such as inattention and behavioural problems, daytime sleepiness, failure to thrive, cardiological and metabolic complications, the benefit of a widespread screening and the treatment in children with genetic diseases is undoubtful. The goals of the further efforts can be the inclusion of various genetic diseases into guidelines for the screening of OSAS, updating the shreds of evidence based on the research progression.

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“…Recommendation for EDS has lacked so far. Management is helpful for all diseases involving connective tissue (82).…”

Section: Ehler-danlos Syndromementioning

confidence: 99%

Sleep-disordered breathing in paediatric setting: existing and upcoming of the genetic disorders

Zaffanello¹,

Antoniazzi²,

Tenero³

et al. 2018

Ann. Transl. Med.

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“…Multidisciplinary evaluation may include pediatric otolaryngology as well as pediatric pulmonology and sleep studies of even very young children are often indicated. [38][39][40] There are several important points regarding the history and physical examination of short statured patients during the newborn and early childhood periods. The craniofacial region should be inspected for a wide variety of abnormalities including clouding of the cornea (eg, mucopolysaccharidoses), calcification of or overall thickening of the ears (eg, diastrophic dwarfism), and midface hypoplasia (eg, achondroplasia).…”

Section: Physical Examinationmentioning

confidence: 99%

Evaluation of the Child with Short Stature

Mehlman

Ain

2015

Orthopedic Clinics of North America

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“…One prospective study showed that 25% of CM-1 patients have sleep apnea, with half of those patients having obstructive sleep apnea (OSA) and half having central sleep apnea (CSA) [3]. Though the etiology of OSA in CM-1 patients has not been completely elucidated, it is thought that the function of cranial nerves IX and X is compromised by the herniated tonsils leading to the intermittent airway occlusion in CM-1 patients with OSA [4, 5]. For those CM-1 patients with CSA, it is thought that the medulla may be compressed by the herniation, resulting in compromise of the brainstem respiratory center [6].…”

Section: Introductionmentioning

confidence: 99%

Management of Sleep Apnea in Children with Chiari I Malformation: A Retrospective Study

et al. 2022

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Introduction: The literature indicates that decompression of Chiari I malformations (CM-1) may resolve symptoms of sleep apnea. This study aims to identify the incidence of obstructive (OSA), central (CSA), and mixed sleep apnea in a cohort of pediatric CM-1 patients treated at our institution. We also assessed AHI and symptomatology before and after surgery to investigate if Chiari decompression is a viable treatment for sleep apnea in CM-1 patients. Improvement relative to ENT surgical intervention was also considered. Methods: We identified 75 patients who underwent polysomnography from our database of 465 CM-1 patients. Sleep apnea diagnosis was based on the sleep physician’s overall interpretation of the polysomnography. Symptomatology pre- and post-surgery was analyzed. Results: Of the 75 CM-1 patients that underwent polysomnography, 23 were diagnosed with sleep apnea. 16 had OSA, 6 had CSA, and 1 had mixed apnea. 12 OSA patients received ENT intervention. 8 improved, and 2 further improved after Chiari decompression. Of the 4 patients that did not improve, one of those later improved following Chiari decompression. Of the 6 CSA patients, 2 underwent Chiari decompression, but only one improved. The mixed apnea patient underwent several ENT interventions that did not relieve symptoms, but improved following Chiari decompression. Discussion/Conclusions: Based our results, sleep apnea in CM-1 patients may be obstructive, central, or mixed and is likely multifactorial. A multi-disciplinary approach to management of these patients is important including neurosurgery, otolaryngology, and sleep medicine. Future prospective studies will lend further insight into this condition and its management.

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Obstructive Sleep Apnea-Hypopnea Syndrome in Children: Beyond Adenotonsillar Hypertrophy

Cited by 8 publications

References 110 publications

Sleep-disordered breathing in paediatric setting: existing and upcoming of the genetic disorders

Sleep-disordered breathing in paediatric setting: existing and upcoming of the genetic disorders

Evaluation of the Child with Short Stature

Management of Sleep Apnea in Children with Chiari I Malformation: A Retrospective Study

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