Obstructing Sleep Apnea in Children with Genetic Disorders—A Special Need for Early Multidisciplinary Diagnosis and Treatment

Abstract

Background—Children with genetic disorders have multiple anatomical and physiological conditions that predispose them to obstructive sleep apnea syndrome (OSAS). They should have priority access to polysomnography (PSG) before establishing their therapeutic protocol. We analyzed the prevalence and the severity of OSAS in a particular group of children with genetic disorders and strengthened their need for a multidisciplinary diagnosis and adapted management. Methods—The retrospective analysis included children with genetic impairments and sleep disturbances that were referred for polysomnography. We collected respiratory parameters from sleep studies: apnea–hypopnea index (AHI), SatO2 nadir, end-tidal CO2, and transcutaneous CO2. Subsequent management included non-invasive ventilation (NIV) or otorhinolaryngological (ENT) surgery of the upper airway. Results—We identified 108 patients with neuromuscular disorders or multiple congenital anomalies. OSAS was present in 87 patients (80.5%), 3 of whom received CPAP, 32 needed another form of NIV during sleep, and 15 patients were referred for ENT surgery. The post-therapeutic follow-up PSG parameters confirmed the success of the treatment. Conclusions—The upper airway obstruction diagnostics and management for children with complex genetic diseases need a multidisciplinary approach. Early detection and treatment of sleep-disordered breathing in children with genetic disorders is a priority for improving their quality of life.

Cardiac Implications of Adenotonsillar Hypertrophy and Obstructive Sleep Apnea in Pediatric Patients: A Comprehensive Systematic Review

“…However, in children with genetic conditions, A&T treatment, when indicated, is often insufficient for complete recovery, making the control of cardiovascular complications more challenging. Therefore, additional therapeutic measures are frequently implemented [51]. Further, well-conducted studies are needed in otherwise healthy ATH patients and fragile children with genetic conditions.…”

A Diagnostic Challenge in an Adolescent with Collagen VI-Related Myopathy and Emotional Disorder—Case Report

“…NMDs have a great impact on sleep [23,24], but we found very few studies evaluating sleep quality in patients with collagen VI-related myopathy. They are especially related to the initiation of NIV in a patient who presented morning headache, irritability, and aggressiveness as main symptoms.…”

The Role of Airway Management on Feeding Difficulties in Children With Pfeiffer Syndrome

“…There is evidence that the insertion of nasopharyngeal airway (NPA) can lead to improved outcomes and they are often preferred to surgical interventions such as tracheostomy 8 . Nonsurgical interventions such as noninvasive ventilation including continuous positive airway pressure and bilevel positive airway pressure can be used in reducing the airway obstruction, however, there are notable challenges including appropriate mask fitting due to facial configuration as well as practical and comfort issues postcranial vault surgery 9 . Both the airway obstruction and the intervening airway adjunct can contribute to feeding difficulties and failure to thrive in children with Pfeiffer syndrome 10 …”

“…8 Nonsurgical interventions such as noninvasive ventilation including continuous positive airway pressure and bilevel positive airway pressure can be used in reducing the airway obstruction, however, there are notable challenges in-cluding appropriate mask fitting due to facial configuration as well as practical and comfort issues postcranial vault surgery. 9 Both the airway obstruction and the intervening airway adjunct can contribute to feeding difficulties and failure to thrive in children with Pfeiffer syndrome. 10 To our knowledge, there is no current literature directly assessing the impact of airway intervention on feeding ability in children with Pfeiffer syndrome.…”