Management of Sleep Apnea in Children with Chiari I Malformation: A Retrospective Study.

INTRODUCTION: The literature indicates that decompression of Chiari I malformations (CM-1) may resolve symptoms of sleep apnea. This study aims to identify the incidence of obstructive sleep apnea (OSA), central sleep apnea (CSA), and mixed sleep apnea in a cohort of pediatric CM-1 patients treated at our institution. We also assessed apnea-hypopnea index and symptomatology before and after surgery to investigate if Chiari decompression is a viable treatment for sleep apnea in CM-1 patients. Improvement relative to ENT surgical intervention was also considered. METHODS: We identified 75 patients who underwent polysomnography (PSG) from our database of 465 CM-1 patients. Sleep apnea diagnosis was based on the sleep physician's overall interpretation of the PSG. Symptomatology pre- and post-surgery was analyzed. RESULTS: Of the 75 CM-1 patients that underwent PSG, 23 were diagnosed with sleep apnea. Sixteen had OSA, 6 had CSA, and 1 had mixed apnea. Twelve OSA patients received ENT intervention. Eight improved and 2 further improved after Chiari decompression. Of the 4 patients that did not improve, one of those later improved following Chiari decompression. Of the 6 CSA patients, 2 underwent Chiari decompression, but only one improved. The mixed apnea patient underwent several ENT interventions that did not relieve symptoms but improved following Chiari decompression. DISCUSSION/CONCLUSIONS: Based on our results, sleep apnea in CM-1 patients may be obstructive, central, or mixed and is likely multifactorial. A multidisciplinary approach to the management of these patients is important, including neurosurgery, otolaryngology, and sleep medicine. Future prospective studies will lend further insight into this condition and its management.

Assessment and treatment of obstructive sleep-disordered breathing.

Obstructive sleep-disordered breathing (OSDB) is a condition that affects 1% to 3% of the pediatric population. These disorders are difficult to diagnosis and left untreated may be serious, including not only medical comorbidities but also cognitive, academic, behavioral, and emotional sequelae. This article is designed to bring awareness of the severity and prevalence to family physicians and pediatricians. It reviews detailed information concerning OSDB, including the predisposing factors, assessment of presenting features, and treatment.

Role of a respiratory therapist in improving adherence to positive airway pressure treatment in a pediatric sleep apnea clinic.

BACKGROUND: Many pediatric patients need positive airway pressure (PAP) for treatment of obstructive sleep-disordered breathing. Adherence to PAP (defined as percent of nights with PAP use of > 4 h) is often poor and not sustained long-term. With any chronic disease, education has been shown to help with patient outcomes. Education of patients and parents regarding PAP can be provided by different healthcare professionals. There is no published literature assessing the role of respiratory therapists (RTs) in improving adherence to PAP in children. We hypothesized that the addition of RT visits to a PAP clinic would improve PAP adherence. METHODS: RT services for PAP patients were introduced in a multidisciplinary pediatric sleep clinic in May 2006. We identified children who had been followed in clinic, and had adherence download information before and after introduction of RT services. We collected demographic, polysomnography, and CPAP adherence data at clinic visits. RESULTS: Forty-six subjects met criteria for inclusion. The mean ± SD age was 14.9 ± 6 y. The mean ± SD apnea-hypopnea index was 26.7 ± 30 events/h. Other than the addition of the RT intervention, all subjects continued to receive the same clinical services as before. Subjects were divided into 3 groups, based on baseline adherence: 0% use, use for 1-50% of nights, and use for > 50% of nights. There was a statistically significant improvement in PAP adherence in the subjects with baseline use of 0% and 1-50%, but no improvement in those with > 50% use at baseline. There was no significant change in PAP use at subsequent RT visits. CONCLUSIONS: Utilization at clinic visits of an RT trained in the use of PAP improved adherence in pediatric subjects with obstructive sleep-disordered breathing when their baseline PAP adherence was < 50%.

Periodic limb movements during sleep in children with narcolepsy.

STUDY OBJECTIVES: In adults with narcolepsy, periodic limb movements of sleep (PLMS) occur more frequently than in control population, and presence of increased PLMS is associated with greater sleep disruption and shorter mean sleep latency. This study was performed to determine whether PLMS are common in children with narcolepsy, and whether the presence of PLMS is associated with greater sleep disruption. DESIGN: Demographic and polysomnographic information were collected from consecutive patients diagnosed with narcolepsy identified retrospectively by diagnosis-based search. Descriptive data were compiled, and sleep characteristics of children with and without PLMS were compared. SETTING: Sleep disorders center in a children's hospital. PATIENTS: 44 patients, 6-19 years old (mean 13 years, SD 3.57), were identified. Twenty-eight were African American. INTERVENTIONS: None. MEASUREMENTS AND RESULTS: Four patients had a PLMS index (PLMI) ≥ 5/h (considered abnormal in literature). Sixteen (36%) had "any PLMS" (PLMI > 0/h). The mean PLMI was 1.3/h (SD 2.5). Sleep was significantly more disrupted, and the mean sleep latency was shorter in patients with "any PLMS" as compared to those with no PLMS. There was no correlation between the PLMI and other diagnostic criteria for narcolepsy. "Any PLMS" were present equally in children of African American and Caucasian heritage, 35.7% vs. 37.5%. CONCLUSIONS: As in adults, children with PLMS and narcolepsy have more sleep disruption and shorter mean sleep latencies than those with narcolepsy but without PLMS. Our findings also suggest that the use of adult criteria for diagnosis of "significant" PLMS in children may not be sufficiently sensitive.

Report of two patients with associated conditions in addition to cystic fibrosis.

PURPOSE: To report two patients with associated conditions in addition to cystic fibrosis. METHODS: We reviewed our database and report two patients with cystic fibrosis who had associated conditions. These patients also had novel disease causing CFTR mutations on full gene sequence analysis. RESULTS: We identified 2 patients with novel disease causing cystic fibrosis transmembrane conductance regulator mutations that we report here. A 12-year-old female with cystic fibrosis, diagnosed at 18months, had normal pulmonary function tests and chest X-ray. Her main cystic fibrosis-related health issue was poor growth. Results of cystic fibrosis transmembrane conductance regulator DNA analysis showed deltaF508; L467P; and 7T/9T. She was later diagnosed with Crohn's disease. An 11-year-old male with Rubinstein-Taybi syndrome, diagnosed with cystic fibrosis at 2years of age, had minimal findings on chest X-ray and pancreatic insufficiency. Results of his cystic fibrosis transmembrane conductance regulator DNA analysis showed deltaF508; 4329delCT; and 7T/9T. CONCLUSION: We report 2 patients with CF who had associated conditions and also had novel disease causing CFTR mutations. Associated conditions may worsen the clinical manifestations of CF and complicate medical management.