Congenital central hypoventilation syndrome (CCHS) is a rare genetic disorder affecting respiratory control and autonomic nervous system function caused by variants in the paired-like homeobox 2B (PHOX2B) gene. Although most patients are diagnosed in the newborn period, an increasing number of patients are presenting later in childhood, adolescence, and adulthood. Despite hypoxemia and hypercapnia, patients do not manifest clinical features of respiratory distress during sleep and wakefulness. CCHS is a lifelong disorder. Patients require assisted ventilation throughout their life delivered by positive pressure ventilation via tracheostomy, noninvasive positive pressure ventilation, and/or diaphragm pacing. At different ages, patients may prefer to change their modality of assisted ventilation. This requires an individualized and coordinated multidisciplinary approach. Additional clinical features of CCHS that may present at different ages and require periodic evaluations or interventions include Hirschsprung’s disease, gastrointestinal dysmotility, neural crest tumors, cardiac arrhythmias, and neurodevelopmental delays. Despite an established PHOX2B genotype and phenotype correlation, patients have variable and heterogeneous clinical manifestations requiring the formulation of an individualized plan of care based on collaboration between the pulmonologist, otolaryngologist, cardiologist, anesthesiologist, gastroenterologist, sleep medicine physician, geneticist, surgeon, oncologist, and respiratory therapist. A comprehensive multidisciplinary approach may optimize care and improve patient outcomes. With advances in CCHS management strategies, there is prolongation of survival necessitating high-quality multidisciplinary care for adults with CCHS.
Introduction: Obstructive sleep apnea (OSA) is prevalent and may be more severe in children with Sickle Cell Disease (SCD) compared to the general pediatric population. Objectives: The objective of this study was to describe the therapeutic effects and complications of tonsillectomy and adenoidectomy (T&A) for treatment of OSA in children with SCD. Methods: A comprehensive database of pediatric SCD patients was reviewed to identify all patients who underwent T&A between 2010 and 2016. An IRB-approved, retrospective review of laboratory values, perioperative course, pre- and post-T&A hospital utilization, and polysomnography was conducted. Results: There were 132 SCD children (108 HbSS) who underwent T&A. Mean age was 7.6 ± 4.6 years. The mean baseline hemoglobin of these patients was 9.3 ± 1.4 g/dL; 72.7% of patients had pre-operative transfusion, such that the mean Hb at time of T&A was 11.4 ± 1.0 g/dL. The average admission length surrounding T&A was 3.5 ± 1.2 days. Complications were documented in 11.4% of operative cases. Polysomnography was available in 104 pre-T&A and 45 post-T&A. The Apnea-Hypopnea Index decreased on post-T&A polysomnogram (7.6 ± 8.7 vs. 1.3 ± 1.9, p = 0.0001). The O2 nadir improved on post-T&A polysomnogram (81.2 ± 10.8 vs. 89.3 ± 7, p = 0.0003). Emergency room visits (mean events per year) decreased post-operatively (2.6 ± 2.8 vs. 1.8 ± 2.2, p = 0.0002). Conclusions: T&A can be a safe and effective option to treat OSA in pediatric patients with SCD and was significantly associated with reduced AHI and fewer ER visits post-operatively.
Introduction:
Sensorineural hearing loss (SNHL) has been reported to occur at increased frequency in the pediatric sickle cell disease (SCD) population, likely secondary to ototoxic medication regimens and repeat sickling events that lead to end organ damage. Risk and protective factors of SNHL in this population are not fully characterized. The objective of this study was to describe audiology results in children with SCD and the prevalence and sequelae of SNHL.
Methods:
A comprehensive clinical database of 2600 pediatric SCD patients treated at 1 institution from 2010-16 was retrospectively reviewed to identify all patients who were referred for audiologic testing. Audiologic test results, patient characteristics, and SCD treatments were reviewed.
Results:
181 SCD children (97 male, 153 HbSS) underwent audiologic testing, with 276 total audiology encounters, ranging 1–9 per patient. Mean age at first audiogram was 8.9 ± 5.2 years. 29.8% had prior cerebrovascular infarct and an additional 25.4% had prior abnormal transcranial Doppler screens documented at time of first audiogram. Overall, 13.3% had documented hearing loss, with 6.6% SNHL. Mean pure tone average (PTA) among patients with SNHL ranged from mild to profound hearing loss (Right: 43.3 ± 28.9, Left: 40.8 ± 29.7), sloping to more severe hearing loss at higher frequencies.
Conclusions:
Hearing loss was identified in a significant subset of children with SCD and the hearing loss ranged from normal to profound. Though the overall prevalence of SNHL in SCD patients was low, baseline audiology screening should be considered.