Adenotonsillectomy outcomes in children with down syndrome and obstructive sleep apnea: a single center study.

PURPOSE: This study aimed to evaluate polysomnographic (PSG) outcomes of tonsillectomy and adenoidectomy (T&A) in children with Down Syndrome (DS) and OSA, and the difference in PSG outcomes of T&A between children with DS and age- and gender-matched normally developing (non-DS) children. METHODS: This was a single center retrospective study that included children with DS and OSA who underwent T&A and had pre-operative and post-operative PSG. The baseline and the differences of pre- and post-operative PSG variables were compared with those of an age- and gender-matched group of non-DS children. RESULTS: Forty-eight children with DS were included in the study; the median age was 5 years (IQR 5.5), 58% were males, and the median BMI was 18.2 (IQR 3.3). There was statistically significant improvement noted between pre-operative and post-operative OAHI 17.9 ± 26.7 vs. 9.1 ± 13.6 (p = 0.022) and non-REM AHI 13.9 ± 19.7 vs. 6.9 ± 14.2 (p = 0.027). However, there were no significant changes in sleep architecture, oxygen desaturation nadir, or CO2 levels. 54.2% of the DS children continued to have moderate to severe OSA after T&A. Univariate logistic regression showed that for every 1% increase in oxygen desaturation nadir, the odds of having residual moderate or severe OSA decreased by 28% (p = 0.002) compared to the cured and mild OSA groups. There was no significant pre- and post-operative differences in PSG variables noted in 16 children with DS compared to age- and gender-matched non-DS children. CONCLUSION: Despite the overall significant reduction of OAHI in children with DS and OSA who underwent T&A, there was a residual moderate to severe OSA in about half of the included children. Oxygen desaturation nadir was a predicting factor for persistent moderate to severe OSA. There were no significant pre- and post-operative PSG differences in between DS children compared to non-DS children.

Role of High Flow Nasal Cannula as a Novel Therapy for Treatment of Severe Obstructive Sleep Apnea in a Child With Neuroendocrine Hyperplasia of Infancy: A Case Report and Review of Literature.

Neuroendocrine hyperplasia of infancy is a rare form of pediatric interstitial lung disease presenting with hypoxemia, tachypnea, retractions, and persistent pulmonary crackles in the first year of life. As these children frequently require supplemental oxygen therapy and demonstrate nighttime hypoxemia, there is a concern for an increased prevalence of sleep-disordered breathing in this population, including obstructive sleep apnea. As untreated sleep-disordered breathing is associated with adverse developmental outcomes for children, it is essential to promptly diagnose and treat. However, treatment of obstructive sleep apnea is often challenging in children. In this report, we describe a case of a child diagnosed with neuroendocrine hyperplasia of infancy at 12 months of age who was subsequently found to have severe obstructive sleep apnea that persisted despite adenotonsillectomy. As continuous positive airway pressure was not well tolerated, the patient was initiated on a high-flow nasal cannula at nighttime, which resulted in improvement of his sleep apnea and daytime functioning with better adherence to treatment. Our case illustrates the importance of screening for sleep-disordered breathing in patients with neuroendocrine hyperplasia of infancy, as well as the utility of a high-flow nasal cannula as a novel, effective treatment for pediatric obstructive sleep apnea.

Sleep-Disordered Breathing in an Infant With Achondroplasia and Foramen Magnum Stenosis.

Sleep-disordered breathing (SDB) is a frequently recognized comorbidity in infants and children with achondroplasia due to alterations in craniofacial and upper airway anatomy. Foramen magnum stenosis and cervicomedullary compression can be associated with SDB in this population, requiring prompt evaluation by multidisciplinary teams. Untreated SDB is associated with adverse cardiovascular, metabolic, and behavioral effects in children, necessitating early screening and treatment of underlying causes. Cervicomedullary compression is also associated with increased mortality and sudden infant death in infants with achondroplasia. Management of SDB in children with achondroplasia may involve a combination of neurosurgical intervention, adenotonsillectomy, and/or continuous positive airway pressure (CPAP). We recognize a need for increased physician awareness of the recommended screening guidelines to optimize health outcomes for children with achondroplasia. In this report, we describe a case of a five-month-old infant with achondroplasia and severe SDB diagnosed by polysomnography and was found to have moderate-to-severe foramen magnum stenosis identified by MRI. Subsequently, this infant underwent foramen magnum decompression, which improved the severe SDB and was followed up for five years. Our case illustrates the importance of early screening in infants with achondroplasia for SDB to prevent further sequelae.

Prevalence, associated risk factors, and respiratory event distribution of obstructive sleep apnea in children with Down syndrome.

PURPOSE: Children with Down Syndrome (DS) have a high prevalence of obstructive sleep apnea (OSA). We aimed to assess OSA prevalence in a single center cohort of children with DS, identify associated risk factors of obstructive respiratory events, and examine the influence of different sleep stages and body positions on respiratory events distribution. METHODS: Single center retrospective study that included children with DS who underwent overnight polysomnogram (PSG). OSA severity was categorized by obstructive apnea-hypopnea index (OAHI) as mild (1.5-4.9 events/h), moderate (5-9.9 events/h), and severe (≥ 10 events/h). A logistic regression analysis was used to examine the association between OSA-related risk factors in normal and abnormal OAHI category and in REM and Non-REM predominant AHI groups. RESULTS: PSG data were available for 192 children with a median age of 5 years (IQR 7). OSA prevalence was 82.3% (27.1% mild, 19.8% moderate, and 35.4% severe). A logistic regression model identified BMI and being an African American as significant predictors for OAHI severity. In children with OSA, the median OAHI was 7.6 and obstructive respiratory events were more common in REM sleep and in the supine position. The median REM OAHI was 20 events/h (IQR: 24.4), whereas the median Non-REM OAHI was 5.2 events/h (IQR: 12.6 p < 0.0001). Similarly, supine OAHI was 11.6 (IQR: 19.3) and off supine OAHI was 6.6 (IQR: 11.6, p = 0.0004). Age was a significant predictor (p = 0.012) for Non-REM predominant OSA which was present in 15.2% of children with OSA. CONCLUSION: Children with DS have a high prevalence of OSA. Higher BMI and being an African American were significant associated risk factors for higher OAHI. Obstructive respiratory events in children with DS occur predominantly in REM sleep and in the supine position. Non-REM predominant distribution of respiratory events was noted in older children with DS.

Polysomnographic outcomes of revision adenoidectomy in children with obstructive sleep apnea and recurrent/residual adenoidal hypertrophy.

INTRODUCTION: Recurrent/residual adenoidal hypertrophy after adenotonsillectomy in children can result in obstructive sleep apnea (OSA). We aimed to assess the polysomnographic (PSG) outcomes of revision adenoidectomy in children with recurrent/residual adenoidal hypertrophy and OSA. METHODS: This was a single-center retrospective study that included children with sleep studies that confirmed OSA and known history of adenotonsillectomy who were diagnosed with adenoidal hypertrophy and subsequently underwent revision adenoidectomy. Pre- and postoperative PSG variables of revision adenoidectomy were included in the analysis. RESULTS: A total of 20 children were included in the study. The cohort included 13 males and 7 females with a mean age of 7.8 years (± 3.6 years). The mean BMI z score was 1.96 [1.31, 2.43]. The median duration from adenotonsillectomy performance was 2.3 years [1.4, 4.0]. Overall, revision adenoidectomy resulted in significant improvements in multiple respiratory parameters, including AHI 6.6 [1.4, 13. 7] vs 14.8 [7.4, 20.7], p = 0.02; oxygen desaturations nadir 88.0 [84.0, 93.0] vs 80.0 [72.2, 88.9], p = 0.01; supine AHI 8.6 [1.5, 14.3] vs 17.6 [8.3, 30.2], p = 0.02; and arousal index 12.2 [9.6, 15.7] vs 18.9 [13.4, 24.9], p = 0.04. CONCLUSIONS: Children with recurrent/residual adenoidal hypertrophy after adenotonsillectomy who undergo revision adenoidectomy experience improvements in respiratory event, gas exchange, and arousal index.

Clinical Laboratory Approaches for Diagnoses of Sleep-Disordered Breathing and ADHD-Like Behavior in Children.

BACKGROUND: Impaired breathing during sleep, as in obstructive sleep apnea (OSA), can lead to behavior symptoms like those observed in children with attention deficit hyperactivity disorder (ADHD). Obstructive sleep apnea can be effectively treated, thus avoiding problematic pharmacotherapies associated with managing ADHD. Diagnosis of OSA relies on sleep studies as the gold standard, but in children, sleep studies are inherently difficult, cumbersome, and expensive and are not practical tools in the differential diagnosis of behavior disorders. Therefore, development of clinical laboratory tests for diagnoses of sleep apnea would change the standard of care for attention deficit syndromes. CONTENT: We review the status of potential laboratory tests for diagnosis of OSA in children with emphasis on markers linked to intermittent hypoxia and cardiovascular responses. In the context of ADHD, we focus on preliminary evidence and rationale for urocortin 3 and erythropoietin as urinary markers with physiologic relevance for diagnosis of OSA. SUMMARY: Laboratory tests that correlate with both OSA and ADHD-like syndromes would be useful to diagnose root causes of behaviors and identify a subset of children who may not need psychotropic medications. The discovery of laboratory biomarkers for OSA is evolving, but several candidates show promise and provide a segue to more focused development in laboratory diagnostics.

Role of neck radiography in assessing recurrent/residual adenoid hypertrophy in children with OSA and history of adenotonsillectomy: a sleep physician perspective.

STUDY OBJECTIVES: Recurrent/residual adenoid hypertrophy after adenotonsillectomy in children can result in obstructive sleep apnea (OSA). We aimed to assess the role of soft tissue neck X-ray (STN-XR) in evaluating recurrent/residual adenoid tissue hypertrophy. METHODS: This was a single-center retrospective study that included children with sleep study-confirmed OSA and a known history of adenotonsillectomy who underwent STN-XR to evaluate for recurrent/residual adenoid tissue hypertrophy. STN-XR nasopharyngeal obliteration and baseline polysomnographic data were analyzed. Multiple linear regression was used to assess the independent relationship between the results of STN-XR and the total apnea-hypopnea index, while controlling for relevant characteristics. RESULTS: The study included 160 participants with a median age of 10 years (quartile [Q] 1 = 7, Q3 = 12.25). More than half of the children were male (59.4%) and the median body mass index z-score was 2.11 (Q1 = 1.23, Q3 = 2.54). STN-XR was normal in 39.4%, and it showed mild, moderate, and complete nasopharyngeal obliteration in 20.6%, 32.5%, and 7.5% of the participants, respectively. Multiple regression analysis showed that moderate and complete nasopharyngeal obliteration was associated with an increase in the mean total apnea-hypopnea index by 109% (P = .0002) and 185% (P = .001), respectively, when compared with children without nasopharyngeal obliteration. However, mild nasopharyngeal obliteration, body mass index z-score, age, sex, and race were not significantly associated with an increase in the total apnea-hypopnea index. CONCLUSIONS: STN-XR was useful in assessing recurrent/residual adenoid tissue hypertrophy in children with OSA and a history of adenotonsillectomy. Moderate and complete nasopharyngeal obliteration were associated with significantly increased apnea-hypopnea index. Pediatric sleep physicians may consider STN-XR in the evaluation of children with OSA and previous history of adenotonsillectomy. CITATION: Senthilvel E, Nguyen QL, Gunaratnam B, Feygin YB, Palani R, El-Kersh K. Role of neck radiography in assessing recurrent/residual adenoid hypertrophy in children with OSA and history of adenotonsillectomy: a sleep physician perspective. J Clin Sleep Med. 2023;19(6):1027-1033.

Outcomes of adenotonsillectomy in severe pediatric obstructive sleep apnea.

We conducted a retrospective chart review to examine the efficacy of adenotonsillectomy for the treatment of severe obstructive sleep apnea (OSA) in children. Our study population was made up of 85 patients-58 boys and 27 girls, aged 1 to 17 years (mean: 6.9 ± 4.4)-with severe OSA who had undergone adenotonsillectomy and pre- and postoperative attended polysomnography (PSG) over a 4-year period. Severe OSA was defined as an apnea-hypopnea index (AHI) of >10 events per hour of sleep. Patients who had an underlying genetic or craniofacial anomaly were excluded. In addition to demographic and PSG data, we compiled information on selected characteristics of patients according to postoperative residual AHIs of ≤5 and >5. Finally, information on body mass index z score was available on 72 patients; the mean score was 1.55 ± 1.51, with 36 patients (50.0%) fulfilling the criteria for obesity. In the group as a whole, we found that adenotonsillectomy resulted in a significant reduction in AHI from 35.4 to 7.1 (p < 0.001). We also found an improvement in mean oxygen saturation nadir from 75.2 to 85.5 (p < 0.001). Postoperatively, only 8 patients (9.4%) achieved an AHI of ≤1; AHIs were >1 to ≤5 in 39 patients (45.9%), >5 to ≤10 in 24 patients (28.2%), and >10 in 14 patients (16.5%). A significantly higher proportion of boys had a residual AHI of >5 after surgery compared with those whose postoperative AHI was ≤5 (78.9 vs. 59.6%; p = 0.04). We conclude that adenotonsillectomy leads to a significant improvement in sleep-disordered breathing in children with severe OSA, but residual disease is common so close postoperative follow-up is essential.

Effect of Sleep State and Position on Obstructive Respiratory Events Distribution in Adolescent Children.

STUDY OBJECTIVES: This study aimed to examine the effect of sleep state (rapid eye movement [REM] versus non-rapid eye movement [NREM]) and position (supine versus non-supine position) on obstructive respiratory events distribution in adolescent population (ages 12 to 18 y). METHODS: This was a retrospective study that included 150 subjects between the ages of 12 to 18 y with an apnea-hypopnea index (AHI) > 1/h. Subjects using REM sleep-suppressant medications and subjects with history of genetic anomalies or craniofacial syndromes were excluded. RESULTS: The median age was 14 y with interquartile range (IQR) of 13 to 16 y, 56% of patients were males and the median body mass index (BMI) z-score was 2.35 (IQR: 1.71-2.59) with 77.3% of patients fulfilling obesity criteria. Respiratory obstructive events were more common in REM sleep. The median REM obstructive AHI (OAHI) was 8.9 events per hour (IQR: 2.74-22.8), whereas the median NREM OAHI was 3.2 events per hour (IQR: 1.44-8.29; p < 0.001). African American adolescents had more REM obstructive events with median REM OAHI of 13.2 events per hour (IQR: 4.88-30.6), which was significantly higher than median REM OAHI of 4.94 (IQR: 2.05-11.36; p = 0.004) in white adolescents. Obstructive events were more common in supine position with higher median supine OAHI of 6.55 (IQR: 4-17.73) when compared to median non-supine OAHI of 2.94 (IQR: 1-6.54; p < 0.001). CONCLUSIONS: This study shows that sleep related obstructive respiratory events in the adolescents (12 to 18 y of age) occur predominantly in REM sleep and in supine position.

Severe Central Sleep Apnea in Vici Syndrome.

Vici syndrome is a rare congenital multisystem disorder due to recessive mutations in the key autophagy regulator EPG5. Vici syndrome is characterized by agenesis of the corpus callosum, hypopigmentation, immunodeficiency, cataracts, and cardiomyopathy, with variable additional multisystem involvement. Here we report on a 5-year-old girl who presented with global developmental delay, seizures, callosal agenesis, cataracts, sensorineural hearing loss, hypopigmentation, and immunodeficiency with a low CD4 count and recurrent infections. EPG5 sequencing (prompted by suggestive clinical features) revealed a homozygous missense mutation, c.1007A>G (p.Gln336Arg). The patient was referred to our center for evaluation of nocturnal apnea. Overnight polysomnography showed severe central sleep apnea (CSA) with an overall apnea-hypopnea index of 100.5 events per hour of sleep (central apnea index of 97.5, mixed apnea index of 2, and obstructive hypopnea index of 1). The patient responded to bilevel positive airway pressure therapy with a backup rate with normalization of the apnea-hypopnea index and maintenance of oxygen saturation >90%. Despite successful control of the severe CSA, the patient was eventually started on nocturnal oxygen therapy due to excessive upper airway secretions and the high risk of possible aspiration with positive airway pressure therapy. This is the first report of EPG5-related Vici syndrome associated with CSA. We discuss the polysomnographic findings in our patient in the context of a brief literature review of the reported sleep abnormalities in Vici syndrome.

An 18-Year-Old Woman With Snoring and Refractory Epilepsy.

An 18-year-old woman with a history of refractory complex partial epilepsy presented for evaluation of snoring and episodes of gasping for air during sleep. She had uncontrolled epilepsy since the age of 8 years despite trial of multiple antiepileptic medications. She eventually underwent an implantation of a vagus nerve stimulator (VNS) device (model 103; Cyberonics Inc) with gradual adjustment of the VNS settings for better seizure control.

A 15-year-old boy with snoring and molar tooth sign.

A 15-year-old boy presented for evaluation of snoring and sleep-disordered breathing. The parents noted that the patient snored every night and that he had episodes when he stopped breathing, ending with gasping for air. He had no history of sleep walking, night terrors, tongue biting, or seizures. The patient had two healthy siblings, but he had a history of intellectual disability and developmental delay. The patient had a history of adenotonsillectomy.

Body position and obstructive sleep apnea in children with Down syndrome.

INTRODUCTION: Children with Down syndrome (DS) commonly have obstructive sleep apnea syndrome (OSAS) and may assume a unique sleeping position not systematically described previously. We describe this sleep position in DS and explore its relationship with OSAS in comparison to control children (CC). METHODS: Overnight video-polysomnograms (PSG) of consecutive children with DS (age 2-18 y), referred to our center between April 2008 and October 2009, were retrospectively analyzed by a single scorer (ES). CC group comprised age and gender matched, non-syndromic, neurologically intact children referred to us for suspected OSAS over the same period. RESULTS: Each group had 17 subjects matched for age (median [IQR]; 6 [4-8]) and gender (65% female). DS group had higher BMI (median [IQR]; 18.8 [17.4-21.0]) than CC (17 [14.7 -18.8]; p = 0.03). There were however no significant differences (median [IQR]) between DS and CC with respect to sleep time in minutes (460 [425-499] vs 424[410-483]), sleep efficiency (%) (90.9 [87.4-92.4] vs 88.6 [79.9-93.1]), REM time (%) (17.1 [14.2-22.1] vs 19.2 [14.9-22.1]), supine time (%) (40.7 [24.8-56.0] vs 15.8 [0.40-44.5], p 0.06), mean oxygen saturation (%) (95 [94-96] vs 96 [95-97]), oxygen saturation nadir (89 [86-91] vs 89[94-92]), or total apnea-hypopnea index (4.3 [3-7.8] vs 5.1[1.9-9.6]). Despite these similarities between the groups, 9 (53%) DS children slept seated bent forward with head resting on bed for at least part of the total sleep time (%) (7.8 ± 10.9, range 0.8-35.7).This was absent in the CC group (p = 0.06). CONCLUSION: Some DS children assume a peculiar body position, sitting cross-legged flopped-forward with head resting on bed while asleep. This is absent in age- and gender-matched controls showing otherwise similar PSG characteristics. The reason for this posture is unclear from this study. However, this novel report of a unique sleeping position would provide us with a basis to conduct a prospective study involving a larger population to ascertain the contribution of this position for OSAS protection or to determine if it may be forme fruste parasomnia.

Evaluation of sleep disorders in the primary care setting: history taking compared to questionnaires.

STUDY OBJECTIVES: The objective of this study was to determine if primary care providers (PCPs) screen for sleep disorders during clinical evaluation of new patients, and to compare this to likely sleep diagnoses as assessed by validated questionnaires. METHODS: Adult patients evaluated as new patients in a primary care clinic at a tertiary care center were included in a prospective study. Following their appointment, patients completed the Cleveland Sleep Habits questionnaire (CSHQ), Berlin questionnaire, Epworth Sleepiness Scale (ESS), and STOP questionnaire. The encounters were subsequently reviewed for elements of a sleep history, sleep review of systems, and/or sleep workup. RESULTS: 101 patients participated in the study. DEMOGRAPHICS: 58 (52%) females, mean age 38 ± 12.9 years, body mass index (BMI) 29.5 ± 8.3 kg/m² (BMI > 30 kg/m² in 44%), 46% Caucasian, 38% African American, 11% Hispanic, and 5% other. House staff evaluated 57.4%; faculty evaluated the remainder. The ESS was > 10 in 28% of subjects. High risk for obstructive sleep apnea (OSA) risk was found in 33% (Berlin) and 34% (STOP) (24.8% by both). The CSHQ suggested possible diagnoses of insomnia in 30% and restless legs syndrome in 22%. In the clinic encounters, a limited sleep history was found in 24.8%, documentation of a sleep disorder in 8.9%, referral to sleep clinic in 2%, and referral to psychiatry clinic in 6.9%. CONCLUSION: Symptoms suggestive of sleep disorders are common but are not routinely screened for in the primary care setting. Validated questionnaires can efficiently identify patients at risk for common sleep disorders in this setting.

Primary diffuse large B-cell lymphoma of the skull mimicking osteomyelitis.

Primary lymphomas of the skull are extremely rare, as fewer than 20 cases have been reported in the literature. We describe the case of a 51-year-old woman with Huntington chorea who presented with forehead swelling. Imaging studies detected an enhancing mass in the skull with some destruction of the underlying bone. These features were suggestive of osteomyelitis. Surgical excision was performed, and the mass was found to be a primary diffuse large B-cell lymphoma. The patient was administered postoperative chemotherapy, and she was in complete remission at the 1-year follow-up.

Adult-Onset Still Disease (AOSD).

Adult-onset Still disease (AOSD) is an uncommon clinical entity that predominantly affects young adults. One of the most common presentations of the disease is fever of unknown origin. Early diagnosis can be difficult because fever of unknown origin is more commonly seen with other conditions such as malignancy or infection. Ambiguity in presentation and lack of serologic markers make diagnosis difficult. We describe here an 18-year-old African-American man who presented with fever, sore throat, and arthritis at initial admission, with serology positive for both Mycoplasma pneumonia and Epstein-Barr infection. The patient was discharged without improvement. He was then readmitted with persistence of initial symptoms and, at that stage, he fulfilled the proposed diagnostic criteria of AOSD. The purpose of this case report is to describe the triggering infections that can initially mislead diagnosis and to review the literature about AOSD from a primary care perspective.

Pacemaker induced superior vena cava syndrome: a case report.

INTRODUCTION: Pacemaker induced superior vena cava syndrome is an unusual complication of pacemaker implantation. Endothelial damage caused by repeated trauma from the lead is thought to be responsible for the stenosis. Malignancy has been historically the most common etiology. However, the increase in use of indwelling venous catheters and cardiac pacemaker has resulted in more patients with superior vena cava syndrome of benign etiology. CASE PRESENTATION: A 54-year-old female presented with recurrent spasm and swelling of the neck for the duration of two months. Pacemaker was implanted in 1997 for symptomatic third degree heart block. It was removed in 2007 due to recurrent infection at the lead site. Computed tomography of the chest and venogram were performed which showed stenosis at origin of the superior vena cava with some collateral circulation. She underwent angioplasty by the interventional radiology and is currently free of symptoms. CONCLUSIONS: Our case highlights a relatively uncommon complication of pacemaker. As a primary care physician, one should be aware of this unusual complication of pacemaker. Superior vena cava syndrome should be suspected in patients with history of pacemaker insertion who present to the primary care physician with neck spasm or neck swelling. Primary care physicians should also be aware balloon angioplasty is a reasonable primary intervention in selected patient population.