Obstructing Sleep Apnea in Children with Genetic Disorders—A Special Need for Early Multidisciplinary Diagnosis and Treatment
Abstract
:1. Introduction
2. Materials and Methods
3. Results
4. Discussion
5. Conclusions
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Conflicts of Interest
References
- Marcus, C.L.; Brooks, L.J.; Draper, K.A.; Gozal, D.; Halbower, A.C.; Jones, J.; Schechter, M.S.; Sheldon, S.H.; Spruyt, K.; Ward, S.D.; et al. Diagnosis and management of childhood obstructive sleep apnea syndrome. Pediatrics 2012, 130, 576–584. [Google Scholar] [CrossRef] [PubMed] [Green Version]
- Marcus, C.L.; Brooks, L.J.; Draper, K.A.; Gozal, D.; Halbower, A.C.; Jones, J.; Schechter, M.S.; Ward, S.D.; Sheldon, S.H.; Shiffman, R.N.; et al. Diagnosis and management of childhood obstructive sleep apnea syndrome. Pediatrics 2012, 130, e714–e755. [Google Scholar] [CrossRef] [PubMed] [Green Version]
- Xie, A.; Bedekar, A.; Skatrud, J.B.; Teodorescu, M.; Gong, Y.; Dempsey, J.A. The heterogeneity of obstructive sleep apnea (predominant obstructive vs pure obstructive apnea). Sleep 2011, 34, 745–750. [Google Scholar] [CrossRef] [PubMed]
- Amaddeo, A.; Frapin, A.; Fauroux, B. Long-term non-invasive ventilation in children. Lancet Respir. Med. 2016, 4, 999–1008. [Google Scholar] [CrossRef]
- Chan, J.; Edman, J.C.; Koltai, P.J. Obstructive sleep apnea in children. Am. Fam. Phys. 2004, 69, 1147–1154. [Google Scholar]
- Alexander, N.S.; Schroeder, J.W., Jr. Pediatric obstructive sleep apnea syndrome. Pediatr. Clin. N. Am. 2013, 60, 827–840. [Google Scholar] [CrossRef]
- Young, T.; Palta, M.; Dempsey, J.; Skatrud, J.; Weber, S.; Badr, S. The occurrence of sleep-disordered breathing among middle-aged adults. N. Engl. J. Med. 1993, 328, 1230–1235. [Google Scholar] [CrossRef] [Green Version]
- Robinson, A.; Linden, M.G. Clinical Genetics Handbook; Blackwell Scientific Publications: Oxford, UK, 1993. [Google Scholar]
- Lam, D.J.; Jensen, C.C.; Mueller, B.A.; Starr, J.R.; Cunningham, M.L.; Weaver, E.M. Pediatric sleep apnea and craniofacial anomalies: A population-based case-control study. Laryngoscope 2010, 120, 2098–2105. [Google Scholar] [CrossRef] [Green Version]
- Brietzke, S.E.; Katz, E.S.; Roberson, D.W. Can history and physical examination reliably diagnose pediatric obstructive sleep apnea/hypopnea syndrome? A systematic review of the literature. Otolaryngol. Head Neck Surg. 2004, 131, 827–832. [Google Scholar] [CrossRef]
- Lavi, M.; Tauman, R.; Greenfeld, M.; Fishman, G.; Wasserzug, O.; DeRowe, A. Parental concern as an indicator of the severity of Obstructive Sleep Apnea in children. Int. J. Pediatr. Otorhinolaryngol. 2020, 136, 110144. [Google Scholar] [CrossRef]
- Berger, K.I.; Fagondes, S.C.; Giugliani, R.; Hardy, K.A.; Lee, K.S.; McArdle, C.; Scarpa, M.; Tobin, M.J.; Ward, S.A.; Rapoport, D.M. Respiratory and sleep disorders in mucopolysaccharidosis. J. Inherit. Metab. Dis. 2013, 36, 201–210. [Google Scholar] [CrossRef]
- Lal, C.; White, D.R.; Joseph, J.E.; van Bakergem, K.; LaRosa, A. Sleep-disordered breathing in Down syndrome. Chest 2015, 147, 570–579. [Google Scholar] [CrossRef] [Green Version]
- Alexiou, S.; Brooks, L.J. Congenital disorders affecting sleep. Sleep Med. Clin. 2012, 7, 689–702. [Google Scholar] [CrossRef]
- Berry, R.B.; Budhiraja, R.; Gottlieb, D.J.; Gozal, D.; Iber, C.; Kapur, V.K.; Marcus, C.L.; Mehra, R.; Parthasarathy, S.; Quan, S.F.; et al. Rules for scoring respiratory events in sleep: Update of the 2007 AASM Manual for the Scoring of Sleep and Associated Events. Deliberations of the sleep apnea definitions task force of the American Academy of Sleep Medicine. J. Clin. Sleep Med. 2012, 8, 597–619. [Google Scholar] [CrossRef] [Green Version]
- Poets, C.F. Intermittent hypoxia and long-term neurological outcome: How are they related? Semin. Fetal Neonatal Med. 2020, 25, 101072. [Google Scholar] [CrossRef]
- Fauroux, B.; Amaddeo, A. The particular case of sleep-disordered breathing in syndromic patients. J. Dentofac. Anom. Orthod. 2015, 18, 305. [Google Scholar] [CrossRef] [Green Version]
- Patel, H.H.; Straight, C.E.; Lehman, E.B.; Tanner, M.; Carr, M.M. Indications for tonsillectomy: A 10 year retrospective review. Int. J. Pediatr. Otorhinolaryngol. 2014, 78, 2151–2155. [Google Scholar] [CrossRef]
- Marcus, C.L.; Moore, R.H.; Rosen, C.L.; Giordani, B.; Garetz, S.L.; Taylor, H.G.; Mitchell, R.B.; Amin, R.; Katz, E.S.; Arens, R.; et al. A randomized trial of adenotonsillectomy for childhood sleep apnea. N. Engl. J. Med. 2013, 368, 2366–2376. [Google Scholar] [CrossRef] [Green Version]
- Marcus, C.L.; Rosen, G.; Ward, S.L.; Halbower, A.C.; Sterni, L.; Lutz, J.; Stading, P.J.; Bolduc, D.; Gordon, N. Adherence to and effectiveness of positive airway pressure therapy in children with obstructive sleep apnea. Pediatrics 2006, 117, e442–e451. [Google Scholar] [CrossRef] [Green Version]
- Girbal, I.C.; Goncalves, C.; Nunes, T.; Ferreira, R.; Pereira, L.; Saianda, A.; Bandeira, T. Non-invasive ventilation in complex obstructive sleep apnea-a 15-year experience of a pediatric tertiary center. Rev. Port. Pneumol. 2014, 20, 146–151. [Google Scholar] [CrossRef] [Green Version]
- Haute Autorité de Santé, H.A.S. Place et Conditions de Réalisation de la Polysomnographie et de la Polygraphie Respiratoire dans les Troubles du Sommeil-Rapport d’Évaluation; COSOTER: Saint-Denis La Plaine, France, 2012. [Google Scholar]
- Zaffanello, M.; Antoniazzi, F.; Tenero, L.; Nosetti, L.; Piazza, M.; Piacentini, G. Sleep-disordered breathing in paediatric setting: Existing and upcoming of the genetic disorders. Ann. Transl. Med. 2018, 6, 343. [Google Scholar] [CrossRef]
- Aboussouan, L.S. Sleep-disordered Breathing in Neuromuscular Disease. Am. J. Respir. Crit. Care Med. 2015, 191, 979–989. [Google Scholar] [CrossRef] [Green Version]
- Kushida, C.A.; Chediak, A.; Berry, R.B.; Brown, L.K.; Gozal, D.; Iber, C.; Parthasarathy, S.; Quan, S.F.; Rowley, J.A.; Positive Airway Pressure Titration Task, F.; et al. Clinical guidelines for the manual titration of positive airway pressure in patients with obstructive sleep apnea. J. Clin. Sleep Med. 2008, 4, 157–171. [Google Scholar]
- Mellies, U.; Dohna-Schwake, C.; Stehling, F.; Voit, T. Sleep disordered breathing in spinal muscular atrophy. Neuromuscul. Disord. 2004, 14, 797–803. [Google Scholar] [CrossRef] [PubMed]
- Di Carlo, G.; Zara, F.; Rocchetti, M.; Venturini, A.; Ortiz-Ruiz, A.J.; Luzzi, V.; Cattaneo, P.M.; Polimeni, A.; Vozza, J. Prevalence of sleep-disordered breathing in children referring for first dental examination. A multicenter cross-sectional study using pediatric sleep questionnaire. Int. J. Environ. Res. Public Health 2020, 17, 8460. [Google Scholar] [CrossRef] [PubMed]
- Afsharpaiman, S.; Sillence, D.O.; Sheikhvatan, M.; Ault, J.E.; Waters, K. Respiratory events and obstructive sleep apnea in children with achondroplasia: Investigation and treatment outcomes. Sleep Breath. 2011, 15, 755–761. [Google Scholar] [CrossRef] [PubMed]
- Canora, A.; Franzese, A.; Mozzillo, E.; Fattorusso, V.; Bocchino, M.; Sanduzzi, A. Severe obstructive sleep disorders in Prader-Willi syndrome patients in southern Italy. Eur. J. Pediatr. 2018, 177, 1367–1370. [Google Scholar] [CrossRef] [PubMed]
- Sedky, K.; Bennett, D.S.; Pumariega, A. Prader Willi syndrome and obstructive sleep apnea: Co-occurrence in the pediatric population. J. Clin. Sleep Med. 2014, 10, 403–409. [Google Scholar] [CrossRef]
- Tenconi, R.; Khirani, S.; Amaddeo, A.; Michot, C.; Baujat, G.; Couloigner, V.; De Sanctis, L.; James, S.; Zerah, M.; Cormier-Daire, V.; et al. Sleep-disordered breathing and its management in children with achondroplasia. Am. J. Med. Genet. A 2017, 173, 868–878. [Google Scholar] [CrossRef]
- Sawnani, H.; Thampratankul, L.; Szczesniak, R.D.; Fenchel, M.C.; Simakajornboon, N. Sleep disordered breathing in young boys with Duchenne muscular dystrophy. J. Pediatr. 2015, 166, 640–645.e1. [Google Scholar] [CrossRef]
- Suresh, S.; Wales, P.; Dakin, C.; Harris, M.A.; Cooper, D.G. Sleep-related breathing disorder in Duchenne muscular dystrophy: Disease spectrum in the paediatric population. J. Paediatr. Child Health 2005, 41, 500–503. [Google Scholar] [CrossRef]
- Inverso, G.; Brustowicz, K.A.; Katz, E.; Padwa, B.L. The prevalence of obstructive sleep apnea in symptomatic patients with syndromic craniosynostosis. Int. J. Oral Maxillofac. Surg. 2016, 45, 167–169. [Google Scholar] [CrossRef]
- Doerga, P.N.; Spruijt, B.; Mathijssen, I.M.; Wolvius, E.B.; Joosten, K.F.; van der Schroeff, M.P. Upper airway endoscopy to optimize obstructive sleep apnea treatment in Apert and Crouzon syndromes. J. Craniomaxillofac. Surg. 2016, 44, 191–196. [Google Scholar] [CrossRef]
- Botelho, R.V.; Bittencourt, L.R.; Rotta, J.M.; Tufik, S. Adult Chiari malformation and sleep apnoea. Neurosurg. Rev. 2005, 28, 169–176. [Google Scholar] [CrossRef]
- Botelho, R.V.; Bittencourt, L.R.; Rotta, J.M.; Tufik, S. Polysomnographic respiratory findings in patients with Arnold-Chiari type I malformation and basilar invagination, with or without syringomyelia: Preliminary report of a series of cases. Neurosurg. Rev. 2000, 23, 151–155. [Google Scholar] [CrossRef]
- Dauvilliers, Y.; Stal, V.; Abril, B.; Coubes, P.; Bobin, S.; Touchon, J.; Escourrou, P.; Parker, F.; Bourgin, P. Chiari malformation and sleep related breathing disorders. J. Neurol. Neurosurg. Psychiatry 2007, 78, 1344–1348. [Google Scholar] [CrossRef] [Green Version]
- Cha, J.; Zea-Hernandez, J.A.; Sin, S.; Graw-Panzer, K.; Shifteh, K.; Isasi, C.R.; Wagshul, M.E.; Moran, E.E.; Posner, J.; Zimmerman, M.E.; et al. The Effects of obstructive sleep apnea syndrome on the dentate gyrus and learning and memory in children. J. Neurosci. 2017, 37, 4280–4288. [Google Scholar] [CrossRef]
- Philby, M.F.; Macey, P.M.; Ma, R.A.; Kumar, R.; Gozal, D.; Kheirandish-Gozal, L. Reduced regional grey matter volumes in pediatric obstructive sleep apnea. Sci. Rep. 2017, 7, 44566. [Google Scholar] [CrossRef]
- Macey, P.M.; Sarma, M.K.; Prasad, J.P.; Ogren, J.A.; Aysola, R.; Harper, R.M.; Thomas, M.A. Obstructive sleep apnea is associated with altered midbrain chemical concentrations. Neuroscience 2017, 363, 76–86. [Google Scholar] [CrossRef] [Green Version]
- Kaditis, A.G.; Alonso Alvarez, M.L.; Boudewyns, A.; Abel, F.; Alexopoulos, E.I.; Ersu, R.; Joosten, K.; Larramona, H.; Miano, S.; Narang, I.; et al. ERS statement on obstructive sleep disordered breathing in 1- to 23-month-old children. Eur. Respir. J. 2017, 50. [Google Scholar] [CrossRef] [Green Version]
- Tsiligiannis, T.; Grivas, T. Pulmonary function in children with idiopathic scoliosis. Scoliosis 2012, 7, 7. [Google Scholar] [CrossRef] [Green Version]
- Younes, M.; Ostrowski, M.; Atkar, R.; Laprairie, J.; Siemens, A.; Hanly, P. Mechanisms of breathing instability in patients with obstructive sleep apnea. J. Appl. Physiol. 2007, 103, 1929–1941. [Google Scholar] [CrossRef]
- Yamauchi, M.; Tamaki, S.; Yoshikawa, M.; Ohnishi, Y.; Nakano, H.; Jacono, F.J.; Loparo, K.A.; Strohl, K.P.; Kimura, H. Differences in breathing patterning during wakefulness in patients with mixed apnea-dominant vs obstructive-dominant sleep apnea. Chest 2011, 140, 54–61. [Google Scholar] [CrossRef] [Green Version]
- Guilleminault, C.; Huang, Y.S.; Chin, W.C.; Okorie, C. The nocturnal-polysomnogram and “non-hypoxic sleep-disordered-breathing” in children. Sleep Med. 2019, 60, 31–44. [Google Scholar] [CrossRef]
Patients n = 108 (%) a | Gender | Age at Time of First PSG (Years) Median [IQR] | ||
---|---|---|---|---|
Female n = 43 (39.8%) a | Male n = 65 (60.2%) a | |||
Neuromuscular pathology | 78 (72.2%) | |||
Spinal muscular atrophy (SMA) | 45 | 24 | 21 | - |
SMA 1 | 12 | 4 | 8 | 7 mo [3,4,5,6,7,8,9,10] |
SMA 2 | 25 | 14 | 11 | 8 [4,5,6,7,8,9,10,11,12,13] |
SMA 3 | 8 | 6 | 2 | 11 [5,6,7,8,9,10,11,12] |
Duchenne muscular dystrophy | 25 | - | 25 | 14 [12,13,14,15,16] |
Ulrich muscular dystrophy | 1 | 1 | - | 11 |
Merosin deficient muscular dystrophy | 1 | - | 1 | 5 |
Other myopathies | 6 | 2 | 4 | 15 [12,13,14,15,16,17] |
Skeletal disorders | 4 (3.7%) | |||
Achondroplasia (ACH) | 3 | 3 | - | 4 [1,2,3,4,5,6,7] |
Marfan syndrome | 1 | 1 | - | 17 |
Complex abnormalities | 26 (24.1%) | |||
Craniosynostosis (Crouzon syndrome) | 2 | 1 | 1 | 4 [3,4,5] |
Prader–Willi syndrome (PWS) | 19 | 8 | 11 | 4 [3,4,5,6,7,8,9,10,11] |
Arnold–Chiari syndrome | 5 | 3 | 2 | 11 [3,4,5,6,7,8,9,10,11] |
Genetic Disorder | Prevalence of OSAS |
---|---|
Neuromuscular diseases | 69.2% |
Prader–Willi syndrome | 94.7% |
Arnold–Chiari syndrome | 80% |
Achondroplasia | 100% |
Crouzon syndrome | 100% |
Patients with OSAS n = 87 (80.5%) | Respiratory Characteristics in Polysomnography Median [IQR] | ||||
---|---|---|---|---|---|
AHI (events/h) | Index > 3% (ODI/h) | SpO2 < 90% n (%) * | SatO2 Nadir (%) | ||
Neuromuscular disorders | 59 (67.8%) | 41 (69.4%) | |||
Spinal muscular atrophy (SMA) | 29 | 8.3 [3.1–15.9] | 4.8 [2.9–1.7] | 22 | 77 |
Duchenne muscular dystrophy | 23 | 6.3 [6.3–9.5] | 6.2 [2.9–0.5] | 13 | 80 |
Ulrich muscular dystrophy | 1 | 16 | 16.4 | 1 | 85 |
Merosin deficient muscular dystrophy | 1 | 8.3 | 6.9 | 1 | 89 |
Other myopathies | 5 | 13 [5.8–16.3] | 15.3 [7.2–2.1] | 4 | 82 |
Skeletal disorders | 4 (4.6%) | 4 (100%) | |||
Achondroplasia (ACH) | 3 | 6.5 [3–117.5] | 9.3 [5.3–100.3] | 3 | 71 |
Marfan syndrome | 1 | 8.4 | 6.1 | 1 | 84 |
Complex abnormalities | 24 (27.5%) | 17 (70.8%) | |||
Craniosynostosis (Crouzon syndrome) | 2 | 27.5 [17.3–37.8] | 26.7 [26.2–27.2] | 2 | 60 |
Prader–Willi syndrome (PWS) | 18 | 5.7 [3.7–9.6] | 7.6 [5,6,7,8,9,10,11,12,13,14,15] | 14 | 73 |
Arnold–Chiari syndrome | 4 | 5.1 [1.3–9.1] | 16.5 [15.1–17.5] | 1 | 70 |
Patients with OSAS | OSAS-Treated Patients n = 50 | PSG after Therapy | |||
---|---|---|---|---|---|
n = 87 | ENT | CPAP | BiPAP | n = 29 | |
n = 15 (17.2%) | n = 3 (3.4%) | n = 32 (36.8%) | |||
Neuromuscular disorders | 59 (67.8%) | ||||
Spinal muscular atrophy (SMA) | 29 | 3 | - | 14 | 10 |
Duchenne muscular dystrophy | 23 | 1 | - | 11 | 6 |
Ulrich muscular dustrophy | 1 | - | - | 1 | 1 |
Merosin deficient muscular dystrophy | 1 | - | - | 1 | 1 |
Other myopathies | 5 | - | - | 3 | 2 |
Skeletal disorders | 4 (4.6%) | ||||
Achondroplasia (ACH) | 3 | 2 | 1 | - | 2 |
Marfan syndrome | 1 | 1 | - | 1 | 1 |
Complex abnormalities | 24 (27.5%) | ||||
Craniosynostosis (Crouzon syndrome) | 2 | - | - | - | - |
Prader–Willi syndrome (PWS) | 18 | 8 | 2 | 1 | 6 |
Arnold–Chiari syndrome | 4 | - | - | - | - |
Publisher’s Note: MDPI stays neutral with regard to jurisdictional claims in published maps and institutional affiliations. |
© 2021 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
Share and Cite
Oros, M.; Baranga, L.; Plaiasu, V.; Cozma, S.R.; Neagos, A.; Paduraru, L.; Necula, V.; Martu, C.; Dima-Cozma, L.C.; Gheorghe, D.C. Obstructing Sleep Apnea in Children with Genetic Disorders—A Special Need for Early Multidisciplinary Diagnosis and Treatment. J. Clin. Med. 2021, 10, 2156. https://doi.org/10.3390/jcm10102156
Oros M, Baranga L, Plaiasu V, Cozma SR, Neagos A, Paduraru L, Necula V, Martu C, Dima-Cozma LC, Gheorghe DC. Obstructing Sleep Apnea in Children with Genetic Disorders—A Special Need for Early Multidisciplinary Diagnosis and Treatment. Journal of Clinical Medicine. 2021; 10(10):2156. https://doi.org/10.3390/jcm10102156
Chicago/Turabian StyleOros, Mihaela, Lucica Baranga, Vasilica Plaiasu, Sebastian R. Cozma, Adriana Neagos, Luminita Paduraru, Violeta Necula, Cristian Martu, Lucia Corina Dima-Cozma, and Dan Cristian Gheorghe. 2021. "Obstructing Sleep Apnea in Children with Genetic Disorders—A Special Need for Early Multidisciplinary Diagnosis and Treatment" Journal of Clinical Medicine 10, no. 10: 2156. https://doi.org/10.3390/jcm10102156
APA StyleOros, M., Baranga, L., Plaiasu, V., Cozma, S. R., Neagos, A., Paduraru, L., Necula, V., Martu, C., Dima-Cozma, L. C., & Gheorghe, D. C. (2021). Obstructing Sleep Apnea in Children with Genetic Disorders—A Special Need for Early Multidisciplinary Diagnosis and Treatment. Journal of Clinical Medicine, 10(10), 2156. https://doi.org/10.3390/jcm10102156