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Sleep-disordered breathing in paediatric setting: existing and upcoming of the genetic disorders
Marco Zaffanello1, Franco Antoniazzi1, Laura Tenero1
1Department of Surgical Sciences, Dentistry, Gynecology and Pediatrics, University of Verona, Verona, Italy.
Insights
Childhood obstructive sleep apnea syndrome (OSAS) is common in genetic disorders, often with subtle symptoms but severe complications. Early screening and treatment are crucial for better outcomes in affected children.
Area of Science:
- Pediatric Sleep Medicine
- Genetics
- Otolaryngology
Background:
- Childhood obstructive sleep apnea syndrome (OSAS) involves upper airway abnormalities.
- OSAS is prevalent in various genetic disorders, including achondroplasia, Down syndrome, and Prader-Willi syndrome.
- Craniofacial and upper airway issues are common in these genetic conditions, leading to significant morbidity.
Purpose of the Study:
- To review current knowledge on OSAS in specific genetic disorders.
- To update discoveries regarding OSAS pathophysiology, prevalence, management, and prognosis.
- To provide recommendations for screening and treatment in children with genetic diseases.
Main Methods:
- Literature review focusing on OSAS in achondroplasia, Down syndrome, Prader-Willi syndrome, Pierre Robin sequence, sickle cell disease, Ehlers-Danlos syndrome, Ellis-van Creveld syndrome, Noonan syndrome, mucopolysaccharidoses, and osteogenesis imperfecta.
- Analysis of pathophysiology, incidence/prevalence, management, and prognosis for each condition.
- Synthesis of current evidence and clinical practice observations.
Main Results:
- OSAS presents with varied severity in children with genetic disorders, often with less apparent symptoms but more severe associated morbidities.
- Specific genetic conditions reviewed show distinct patterns of OSAS pathophysiology and prevalence.
- Management and prognosis are influenced by the underlying genetic disorder and OSAS severity.
Conclusions:
- Widespread screening and timely treatment of OSAS in children with genetic diseases are essential due to potential complications like behavioral problems and cardiometabolic issues.
- Guidelines should be updated to include more genetic diseases for OSAS screening.
- Further research is needed to advance evidence-based practices for OSAS management in this population.
Abstract:
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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