Detection of pediatric obstructive sleep apnea using a multilayer perceptron model based on single-channel oxygen saturation or clinical features.

PURPOSE: This study was performed to develop and evaluate a method of detecting pediatric obstructive sleep apnea (OSA) using a multilayer perceptron (MLP) model based on single-channel nocturnal oxygen saturation (SpO2) with or without clinical data. METHODS: Polysomnography data for 888 children with OSA and 417 unaffected children were included. An MLP model was proposed based on the features obtained from SpO2 and combined features of SpO2 and clinical data to screen symptomatic children for OSA. The performance of the overall classification was evaluated with the receiver operating characteristics curve and the metrics of sensitivity, specificity, positive predictive value (PPV), negative predictive value (NPV), positive likelihood ratio (LR+), negative likelihood ratio (LR-), and accuracy. RESULTS: The sensitivity, specificity, PPV, NPV, LR+, LR-, and accuracy of the MLP model for SpO2 of an obstructive apnea-hypopnea index (OAHI) cutoff value of 1, 5, and 10 were 0.62-0.96, 0.11-0.97, 0.70-0.81, 0.55-0.93, 1.08-21.0, 0.39-0.39, and 0.69-0.91, respectively. The area under the receiver operating characteristics curve of an OAHI cutoff value of 1, 5, and 10 was 0.720, 0.842, and 0.922, respectively. After adding the clinical data of age, sex, body mass index, weight category, adenoid grade, or tonsil scale, the performance of the MLP model was basically at the same level as only single-channel SpO2. CONCLUSIONS: Application of this MLP model using single-channel SpO2 in children with snoring has high accuracy in the diagnosis of moderate to severe OSA but a poor effect in the diagnosis of mild OSA. The combination of clinical data did not significantly improve the diagnostic performance of the MLP model.

Sleep disorders in cystic fibrosis: A systematic review and meta-analysis.

Cystic fibrosis (CF) is a genetic disorder that leads to airway mucus accumulation, chronic inflammation, and recurrent respiratory infections - all likely impacting sleep. However, controlled studies of sleep in CF patients are limited, and have shown mixed results. We reviewed all publications on CF and sleep indexed in PubMed, CINAHL, and Scopus through April 2019. In the meta-analysis, we calculated pooled weighted mean differences for sleep quality, sleepiness, oximetry, and polysomnographic (PSG) parameters, using fixed or random-effects models as appropriate. A total of 87 manuscripts were reviewed. Compared to controls, children with CF had lower nighttime oxygen saturation nadirs, decreased sleep efficiency and a higher respiratory event index, with no differences in the percentage of REM sleep. Adults with CF had lower oxygen saturation nadirs, with a trend towards reduced sleep efficiency and no differences in REM sleep. In addition, patients with CF cough more during sleep and experience painful events that interfere with sleep. Actigraphy and questionnaires suggest disturbed sleep and daytime sleepiness. Noninvasive ventilation appears to improve gas exchange and symptoms. We conclude that when sleep is evaluated objectively or subjectively in patients with CF, perturbations are common, emphasizing the importance of their identification and treatment and inclusion as part of routine care. Additional research, with larger sample sizes and standardized outcomes, are necessary.

Identifying Morphological Patterns of Hippocampal Atrophy in Patients With Mesial Temporal Lobe Epilepsy and Alzheimer Disease.

Purpose: Mesial temporal lobe epilepsy (MTLE) and Alzheimer's disease (AD) are two distinct neurological disorders associated with hippocampal atrophy. Our goal is to analyze the morphologic patterns of hippocampal atrophy to better understand the underlying pathological and clinical characteristics of the two conditions. Methods: Twenty-five patients with AD and 20 healthy controls with matched age and gender were recruited into the AD group. Twenty-three MTLE patients and 28 healthy controls with matched age and gender were recruited into the MTLE group. All subjects were scanned on 3T-MRI scanner. Automated volumetric analysis was applied to measure and compare the hippocampal volume of the two respective groups. Vertex-based morphologic analysis was applied to characterize the morphologic patterns of hippocampal atrophy within and between groups, and a correlation analysis was performed. Results: Volumetric analysis revealed significantly decreased hippocampal volume in both AD and MTLE patients compared to the controls. In the patients with AD, the mean total hippocampal volume was 32.70% smaller than that of healthy controls, without a significant difference between the left and the right hippocampus (p < 0.05). In patients with MTLE, a significant reduction in unilateral hippocampal volume was observed, with a mean volume reduction of 28.38% as compared with healthy controls (p < 0.05). Vertex-based morphologic analysis revealed a generalized shrinkage of the hippocampi in AD patients, especially in bilateral medial and lateral regions. In MTLE group, atrophy was seen in the ipsilateral head, ipsilateral lateral body and slightly contralateral tail of the hippocampus (FWE-corrected, p < 0.05). Conclusions: MTLE and AD have distinctive morphologic patterns of hippocampal atrophy, which provide new insight into the radiology-pathology correlation in these diseases.

High prevalence of periodic limb movements of sleep in children with Down syndrome.

STUDY OBJECTIVES: Increased periodic limb movements of sleep (PLMS), > 5 events/h, are present in 1.2% to 7.7% of healthy children and associated with hypertension, attention deficit, and hyperactivity. This study sought to determine the prevalence of elevated PLMS in a large cohort of children with Down syndrome (DS) and their correlation with OSA and ferritin levels. METHODS: Retrospective chart review of all children with DS ages 2 to 18 years in whom single baseline polysomnography (PSG) was performed at a pediatric hospital over 5 years. RESULTS: A total of 418 children met inclusion criteria. Three hundred fifty-six children (85%) were referred because of concerns about sleep-disordered breathing; 49 (12%) were referred for screening per American Academy of Pediatrics (AAP) guidelines; and 13 (3%) because of concerns about restless legs or periodic limb movement disorder. One hundred thirty-nine children (33.3%) had elevated PLMS; they were younger (6.3 years) than those without elevated PLMS (7.7 years). OSA was present in 176/418 (42.1%) children, including 13/49 (26.2%) asymptomatic children referred for screening PSG. Ferritin levels were only recorded in the charts of 65 of the children with elevated PLMS (46.7%); in 36 (55.4%) levels were < 50 ng/mL. CONCLUSIONS: PLMS were increased in a substantial number of this large cohort of children with DS. Additional studies are necessary to assess utility of laboratory testing to predicting PLMS in similar, at-risk, populations. Screening PSG has value in identifying OSA in young, ostensibly asymptomatic children with DS. The prevalence of OSA increased with age in this cohort, unlike in typical children, requiring health care providers to remain vigilant for its emergence across the lifespan.

The evaluation and management of respiratory disease in children with Down syndrome (DS).

Children with Down syndrome (DS) have wide range of respiratory problems. Although underlying abnormalities in the respiratory system are important causes of morbidity and mortality in children with DS, particularly in the young, abnormalities in other organ systems may also impact respiratory function. A comprehensive evaluation of the child with DS and respiratory disease may prevent short-term morbidity and mortality, and reduce the incidence of complications in the long term. This review provides an overview of the various causes of respiratory disease, and insight into some of the newer therapies available to treat obstructive sleep apnea, in this population.

The facial morphology in Down syndrome: A 3D comparison of patients with and without obstructive sleep apnea.

Obstructive sleep apnea (OSA) occurs at a high prevalence in patients with Down syndrome (DS). A polysomnogram, which is often cumbersome and challenging, remains the gold standard method of diagnosing OSA. OSA in patients with DS is often attributed to skeletal and soft-tissue structural alterations that are characteristic of the DS phenotype; as such, we hypothesized that assessing anthropometric facial measurements may be predictive of OSA in patients with DS. We used the 3dMDface sterophotography system to capture and create 3D facial images, and we subsequently identified facial landmarks using a single, experienced investigator and utilizing proprietary software to calculate inter-landmark distances and angles. We compared our findings with similar data for neurotypically developing participants. We further compared the findings in participants with DS with and without OSA. Participants with DS had maxillomandibular hypoplasia with smaller ear, nose, and eye measurements compared to neurotypically developing peers. We found no statistically significant differences in 3D photogrammetric measurements between participants with DS with or without OSA.

Isolated mild sleep-associated hypoventilation in children with Down syndrome.

INTRODUCTION: Children with Down syndrome (DS) have a high incidence of obstructive sleep apnea (OSA) that is often associated with hypoventilation. Little is known, however, about the prevalence of sleep-associated hypoventilation independent of OSA in these children. METHODS: Retrospective chart review of all children with DS under 18 years of age undergoing polysomnography at a tertiary care paediatric hospital during a 2-year period. Exclusion criteria were as follow: those requiring oxygen or positive-pressure ventilation; with tracheostomy, baseline hypoxia, unrepaired cyanotic heart disease, pulmonary hypertension, and cerebral palsy; or OSA with >5 obstructions/hour. RESULTS: 86 children met inclusion criteria. 68 (79%) had ETCO2values >50 mm Hg during sleep. 37 (43%) ranged 50-55 mm Hg, and 12 (14%) met American Academy of Sleep Medicine criteria for hypoventilation of ETCO2 >50 mm Hg for >25% of total sleep time (TST). Average pulse-oximetry saturation (SpO2) values during sleep were 97.8% (SD ±1; range: 95.1-99.9). Average percentage of TST with SpO2 >92% was 99.89%. CONCLUSION: Mildly elevated ETCO2 in the absence of OSA is common in children with DS. This may reflect underlying differences in autonomic control of ventilation in these children and may be considered a normal variant not necessitating intervention other than close monitoring for pulmonary hypertension.

A predictive model for obstructive sleep apnea and Down syndrome.

Obstructive sleep apnea (OSA) occurs frequently in people with Down syndrome (DS) with reported prevalences ranging between 55% and 97%, compared to 1-4% in the neurotypical pediatric population. Sleep studies are often uncomfortable, costly, and poorly tolerated by individuals with DS. The objective of this study was to construct a tool to identify individuals with DS unlikely to have moderate or severe sleep OSA and in whom sleep studies might offer little benefit. An observational, prospective cohort study was performed in an outpatient clinic and overnight sleep study center with 130 DS patients, ages 3-24 years. Exclusion criteria included previous adenoid and/or tonsil removal, a sleep study within the past 6 months, or being treated for apnea with continuous positive airway pressure. This study involved a physical examination/medical history, lateral cephalogram, 3D photograph, validated sleep questionnaires, an overnight polysomnogram, and urine samples. The main outcome measure was the apnea-hypopnea index. Using a Logic Learning Machine, the best model had a cross-validated negative predictive value of 73% for mild obstructive sleep apnea and 90% for moderate or severe obstructive sleep apnea; positive predictive values were 55% and 25%, respectively. The model included variables from survey questions, medication history, anthropometric measurements, vital signs, patient's age, and physical examination findings. With simple procedures that can be collected at minimal cost, the proposed model could predict which patients with DS were unlikely to have moderate to severe obstructive sleep apnea and thus may not need a diagnostic sleep study.

Craniofacial features as assessed by lateral cephalometric measurements in children with Down syndrome.

OBJECTIVE: The objective of the present study is to examine the craniofacial development of patients with Down syndrome (DS) and compare them with a neurotypical population. METHODS: This study is a cross-sectional analysis of lateral cephalometric radiographs of participants with DS. The study population consisted of children and young adults with DS aged 3-25 years. Cephalometric data were summarized by age and sex. Raw and normalized z-scores were computed. One-sample t tests were used to test whether mean z-scores differed from zero. The demographic characteristics between those with or without lateral cephalograms among all study participants were compared by Fisher's exact tests. RESULTS: The study sample comprised of 27 participants with DS. Study subjects demonstrated a class III skeletal pattern. This was more pronounced in the older age groups as compared to younger age groups. Subjects also had an increased proportionate lower anterior face height to total facial height compared to normative standards. Gonial angles, mandibular plane angles, and airway measurements increased with age. CONCLUSIONS: Patients with Down syndrome present typically with class III skeletal pattern and long lower anterior facial heights. In patients with Down syndrome, comprehensive phase of orthodontic treatment may be best initiated following cessation of growth.

Affordable access to care for the undocumented.

How do you tell a sick kid that nobody cares if he gets better? That's an exaggeration, of course, but it is the fundamental message our society sends when we tell him that, because he and his family are undocumented immigrants, we are unwilling to extend them access to affordable and reliable health insurance. One major shortcoming of the Affordable Care Act is its specific exclusion of the almost twelve million undocumented immigrants-including millions of children-in this country from access to the state and federal insurance exchanges where coverage can be purchased. It is true that providing undocumented immigrants access to the exchanges and subsidies mandated by the ACA would require additional funding. However, a recent analysis in California has found that the costs of expanding state-supported care to include undocumented immigrants would largely be offset by the increased state sales tax revenue paid by managed care organizations and by reduced spending at the county level on emergency-room and hospital care of the uninsured.

The diagnosis and management of common sleep disorders in adolescents.

PURPOSE OF REVIEW: Sleep problems in adolescents are very common and negatively impact the quality of their health and lives, yet often go undiagnosed. This review is meant to familiarize pediatricians with some of the more commonly encountered sleep disorders in this age group, and to review their diagnosis and management. RECENT FINDINGS: Recent findings reinforce the ubiquity of insufficient and poor-quality sleep in teens and their consequences on physical and mental health, cognition, and behavior. Increasing use of technology by teens, especially at night, plays a growing role in this. Parentally set bedtimes can be effective in increasing the sleep duration, thereby diminishing the consequences of insufficient sleep. Parasomnias, common in early childhood, usually diminish with the transition into adolescence. An almost 10-fold increase in the incidence of narcolepsy has been reported following the use of one type of vaccination against influenza H1N1 in Europe. Recent guidelines for the diagnosis and management of obstructive sleep apnea are reviewed, as are recent guidelines pertaining to the management of sleep disorders of children on the autism spectrum. SUMMARY: Sleep disorders in adolescents are both very common and underdiagnosed, adversely affecting their overall well being.

Bronchial carcinoid in college freshman with persistent focal wheeze.

PURPOSE: To bring attention to a rare diagnosis in the pediatric population that is in the differential diagnosis for not well-controlled asthma. DATA SOURCES: Case presentation. CONCLUSIONS: Pulmonary carcinoid tumors are rare and usually present late in adolescence. Most of these tumors are located in the proximal airways and symptoms may be similar to those of asthma including cough, wheeze, chest pain, or recurrent pneumonia. IMPLICATIONS FOR PRACTICE: Bronchial carcinoid should be in the differential diagnosis for adolescents with difficult to control asthma, who have symptoms including chronic cough and focal wheeze. Referral to a pulmonary specialist should be considered to help work up the differential diagnoses.

Management of obstructive sleep apnea associated with Down syndrome and other craniofacial dysmorphologies.

PURPOSE OF REVIEW: Obstructive sleep apnea (OSA) is very common in children with Down syndrome and other craniofacial abnormalities and causes significant deleterious physical, developmental, and behavioral outcomes. OSA in these individuals is generally more difficult to treat than in other children, because of increased postoperative complications and lower success rates for adenotonsillectomy, the mainstay of treatment for otherwise healthy children with OSA. RECENT FINDINGS: There is a growing number of treatment options for these children, which can provide an alternative to continuous positive airway pressure or tracheostomy. Through the use of dynamic cine MRI studies, the level of obstruction can be identified and treatment made more focused. SUMMARY: Screening for OSA in this population should be increased, and utilization made of the recent advances in imaging and surgical technique to treat it.

Parental perceptions of sleep disturbances and sleep-disordered breathing in children with Down syndrome.

OBJECTIVES: Children with Down syndrome (DS) have increased difficulty initiating and maintaining sleep (DIMS), excessive daytime sleepiness (EDS), and obstructive sleep apnea (OSA). As part of a quality improvement initiative, parents of children enrolled in the Children's Hospital Boston Down Syndrome Program were surveyed about their child's sleep and breathing patterns while asleep. METHODS: An anonymous Internet-based questionnaire was used in the study. RESULTS: The completion rate was 46.5% (255/548). DIMS and EDS were frequently/almost always present in more than half the children. Among parents unconcerned about their child's breathing, 11.8% witnessed apnea and 4.2% gasping/choking more than once monthly. Parents of children status post adenotonsillectomy (AT) reported witnessed apnea (47.5%), gasping/choking (28.9%) more than once monthly. DISCUSSION: There is room for improved screening of sleep disturbances, OSA in children with DS. The high frequency of persistence of OSA following AT should prompt for continued screening following AT.

Some infants with Down syndrome spontaneously outgrow their obstructive sleep apnea.

INTRODUCTION: Obstructive sleep apnea (OSA) is commonly seen in children with Down syndrome (DS). Though some infants with DS spontaneously outgrow their OSA, it is not clear how often this occurs or how this should affect the choice between surgical and nonsurgical treatment. METHODS: Retrospective chart review of all infants with DS younger than 2 years referred over a 66-month period to Children's Hospital Boston for sleep study because of suspected OSA. RESULTS: A total of 16 of 29 children studied were diagnosed with OSA; 6 were treated with continuous positive airway pressure (CPAP), 3 of whom were found 5, 5, and 10 months later on repeat sleep study to have no further evidence of OSA. CONCLUSION: A significant number of infants with DS and OSA may outgrow it within several months. This has implications for treatment choice, especially between CPAP and tracheostomy, because it may only be needed for a short time.