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Congenital Diseases Predisposing to Sleep Apnea

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Noninvasive Ventilation in Sleep Medicine and Pulmonary Critical Care

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Abstract

Congenital diseases are a large and heterogeneous group of developmental alterations that occur during pregnancy. Congenital diseases have very different causes that can be classified as follows: genetic defects; exposure to infectious agents, chemicals, and drugs with teratogenic action; and a combination of genetic and environmental factors. Congenital disease causes structural, functional, or metabolic abnormalities. Congenital disorders are associated with a higher risk of sleep-related respiratory disorders (SDB) that occur from the first months of life. The various pathophysiological factors involve a variable presence of breathing disturbed in sleep with obstructive and central manifestations. The children with congenital disease, at high risk for SDB, may not present with SDB symptoms and deserve special attention as well as a low threshold for a sleep study referral. Untreated SDB can lead to a worsening of neurocognitive or behavioral manifestations, as well as metabolic, cardiovascular manifestations, which make the treatment of patients with congenital disorders very demanding. Identifying, diagnosing, and treating SDB can significantly improve the patient’s quality of life, prevent the development of sequelae or comorbidities, and prolong survival.

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Abbreviations

AAP:

American Academy of Pediatrics

AT:

Adenotonsillectomy

CF:

Cystic fibrosis

CM:

Chiari malformation

CPAP:

Continuous positive airway pressure

CSA:

Central sleep apnea

DMD:

Duchenne muscular dystrophy

DS:

Down syndrome

EDS:

Ehlers-Danlos syndrome

GAG:

Glycosaminoglycan

GH:

Growth hormone

MPS:

Mucopolysaccharidoses

NIV:

Noninvasive ventilation

OSA:

Obstructive sleep apnea

PRS:

Pierre-Robin syndrome

PSG:

Polysomnography

PWS:

Prader-Willi syndrome

SCD:

Sickle cell disease

SDB:

Sleep disordered breathing

SNC:

Central nervous system

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Author information

Authors and Affiliations

  1. Institute for Biomedical Research and Innovation, National Research Council of Italy, Palermo, Italy

    Anna Lo Bue, Adriana Salvaggio & Giuseppe Insalaco

Authors
  1. Anna Lo Bue
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  2. Adriana Salvaggio
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  3. Giuseppe Insalaco
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Corresponding author

Correspondence to Anna Lo Bue .

Editor information

Editors and Affiliations

  1. Intensive Care Unit, Hospital General Universitario Morales Meseguer, Murcia, Spain

    Antonio M. Esquinas

  2. Department of Pathophysiology and Pulmonary Rehab, Azienda Ospedaliera dei Colli PO Monaldi, Napoli, Italy

    Giuseppe Fiorentino

  3. Innovative Technologies for the Study of Sleep Breathing Disorders, Institute for Biomedical Research and Innovation (IRIB), Italian National Research Council, Palermo, Italy

    Giuseppe Insalaco

  4. Department of Pulmonary and CC Medicine, Lenox Hill Hospital, New York, NY, USA

    Bushra Mina

  5. Department of Respiratory and CC Medicine, First Affiliated Hospital of Chongqing M, Chongqing, China

    Jun Duan

  6. Anestesia and Pediatric Intensive Care Department, University Hospital Policlinico S. Orsola-Malpighi, Bologna, Italy

    Maria Cristina Mondardini

  7. Anestesia and Pediatric Intensive Care Department, University Hospital Policlinico S. Orsola-Malpighi, Bologna, Italy

    Fabio Caramelli

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Lo Bue, A., Salvaggio, A., Insalaco, G. (2020). Congenital Diseases Predisposing to Sleep Apnea. In: Esquinas, A.M., et al. Noninvasive Ventilation in Sleep Medicine and Pulmonary Critical Care. Springer, Cham. https://doi.org/10.1007/978-3-030-42998-0_22

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  • DOI: https://doi.org/10.1007/978-3-030-42998-0_22

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  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-030-42997-3

  • Online ISBN: 978-3-030-42998-0

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