Siglec-1, an easy and contributory inflammation marker in rheumatology.

Objectives: Inflammatory markers such as erythrocyte sedimentation rate (ESR) and C-reactive protein (CRP) are poorly informative about interferon (IFN)-related disorders. In these conditions, the measure of the interferon score (IS), obtained by measuring the expression of IFN-stimulated genes, has been proposed. Flow cytometry-based assays measuring sialic-acid-binding Ig-like lectin 1 (Siglec-1) expression could be a more practical tool for evaluating IFN-inflammation. The study compared Siglec-1 measures with IS and other inflammatory indexes. We compared Siglec-1 measures with IS and other inflammatory indexes in real-world paediatric rheumatology experience. Methods: We recruited patients with immuno-rheumatological conditions, acute infectious illness and patients undergoing orthopaedic surgery as controls. Siglec-1 expression was measured in all samples, and IS, ESR and CRP were also recorded if available. Results: Overall, 98 subjects were enrolled in the study, with a total of 104 measures of Siglec-1. Compared with IS, Siglec-1 expression showed good accuracy (86.0%), specificity (72.7%) and sensitivity (85.7%). The measure of the percentage of Siglec-1-positive cells performed best at low levels of IFN-inflammation, while the measure of mean fluorescence intensity performed best at higher levels. Ex vivo studies on IFN-stimulated monocytes confirmed this behaviour. There was no link between Siglec-1 expression and either ESR or CRP, and positive Siglec-1 results were found even when ESR and CRP were normal. A high Siglec-1 expression was also recorded in subjects with acute infections. Conclusion: Siglec-1 measurement by flow cytometry is an easy tool to detect IFN-related inflammation, even in subjects with normal results of common inflammation indexes.

Neck stiffness and bone osteolytic lesion in a 3-years old child: a case report.

BACKGROUND: Neuroblastoma is the most frequent extracranial solid tumor occurring in childhood, representing approximately 28% of all cancers diagnosed in infants. Signs and symptoms of neuroblastoma vary with the site of development of the tumor and can mimic other diseases due to its extreme clinical variability. However, torticollis is not reported in the medical literature as a leading symptom of neuroblastoma. CASE PRESENTATION: Here we report the case of a 3 years-old girl with fever and neck stiffness. Blood tests revealed a mild anemia and a rise in inflammatory markers. CT-scan showed a solid, heterogeneous, predominantly hypodense surrenal mass with eccentric calcification and extensive inhomogeneity of the vertebral metamers. Blood tests revealed raised serum levels of Neuron-Specific Enolase. At the 24-hours urine collection urinary catecholamines were greatly increased. A course of chemotherapy for neuroblastoma was promptly started with immediate clinical improvement. CONCLUSIONS: This case shows that the presence of torticollis could be a chief complaint of neuroblastoma. To our knowledge, neuroblastoma is not mentioned among life-threatening underlying conditions of torticollis in most recent literature reviews.

Hematopoietic Stem Cells Transplant (HSCT)-Related Chronic Pulmonary Diseases: An Overview.

Recipients of HSCT have a high risk of infective and non-infective pulmonary diseases. Most patients with pulmonary involvement present multiple pathogenetic mechanisms simultaneously with complex interactions. Therefore, it can be difficult to distinguish the contributions of each one and to perform studies on this subject. In this opinion article, we discuss only chronic pulmonary manifestations, focusing on LONIPCs (late-onset non-infectious pulmonary complications). This term embraces drug-related toxicity, allergies, and chronic pulmonary graft versus host disease (GvHD) in all its recently identified clinical variants. Among LONIPCs, GvHD represents the most critical in terms of morbidity and mortality, despite the rapid development of new treatment options. A recently emerging perspective suggests that pulmonary lung rejection in transplant patients shares striking similarities with the pathogenesis of GvHD. In a pulmonary transplant, the donor organ is damaged by the host immune system, whereas in GvHD, the donor immune system damages the host organs. It constitutes the most significant breakthrough in recent years and is highly promising for both hematologists and thoracic transplant surgeons. The number of patients with LONIPCs is scarce, with heterogenous clinical characteristics often involving several pathogenetic mechanisms, making it challenging to conduct randomized controlled trials. Therefore, the body of evidence in this field is scarce and generally of low quality, leading to jeopardized choices in terms of immunosuppressive treatment. Moreover, it risks being outdated by common practice due to the quick evolution of knowledge about the diagnosis and treatment of LONIPCs. The literature is even more pitiful for children with pulmonary involvement related to HSCT.

Frequency and type of domestic injuries among children during COVID-19 lockdown: what changes from the past? An Italian multicentre cohort study.

Accidents are the main cause of injury in children, more than half events happen at home. Aims of this study were to assess if SARS-CoV-2 lockdown influence emergency department (ED) visits due to children domestic accident (DAs) and to identify factors associated with hospitalization. This was a multicentre, observational, and retrospective cohort study involving 16 EDs in Italy and enrolling children (3-13 years) receiving a visit in ED during March-June 2019 and March-June 2020. Risk factors for hospitalization were identified by logistic regression models. In total, 8860 ED visits due to domestic accidents in children occurred before (4380) and during (4480) lockdown, with a mean incidence of DA of 5.6% in 2019 and 17.9% in 2020 (p < 0.001) (IRR: 3.16; p < 0.001). The risk of hospitalization was influenced by the type of occurred accident, with fourfold higher for poisoning and twofold lower risk for stab-wound ones. In addition, a higher risk was reported for lockdown period vs 2019 (OR: 1.9; p < 0.001), males (OR: 1.4; p < 0.001), and it increased with age (OR: 1.1; p < 0.001).    Conclusions: The main limitation of this study is the retrospective collection of data, available only for patients who presented at the hospital. This does highlight possible differences in the total number of incidents that truly occurred. In any case, the COVID-19 lockdown had a high impact on the frequency of DAs and on hospitalization. A public health campaign aimed at caregivers would be necessary to minimize possible risks at home. What is Known: • In Italy, domestic accidents are the second leading cause of paediatric mortality after cancer. • During the first SARS-CoV-2 lockdown in 2020, a sharp decrease in the total number of Emergency Departments visits for all causes was observed, both in children and in adults. What is New: • During the first SARS-CoV-2 lockdown in 2020, domestic accidents involving children increased threefold from the previous year. • Higher risk of hospitalization was showed in minors accessing during 2020 vs 2019, in males than in females and it increased with advancing age. Considering the type of injury, a significant higher risk of hospitalization for poisoning was observed.

Spread of Respiratory Pathogens During the COVID-19 Pandemic Among Children in the Northeast of Italy.

The social distancing measures adopted during the coronavirus disease 2019 (COVID-19) pandemic led to a profound change in the behavioral habits of the population. This study analyzes the impact of restriction measures on the shaping of the epidemiology of common winter respiratory pathogens in the pediatric population of northeast of Italy. From August 2020 to March 2021, a total of 1,227 nasopharyngeal swabs from symptomatic pediatric patients were tested for the presence of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), influenza A and B, adenovirus, other coronaviruses, parainfluenza virus 1-4, enterovirus, bocavirus, metapneumovirus, respiratory syncytial virus, rhinovirus, Bordetella pertussis, Bordetella parapertussis, and Mycoplasma pneumoniae. To relate virus positivity with the clinic characteristics of the subjects enrolled, multinomial logistic models were estimated. SARS-CoV-2 was detected in 5.2% of the children; fever resulted as risk factor for infection [relative risk ratio (RRR) = 2.88, p = 0.034]. Rhinovirus was detected in the 40.7% of the subjects, with cough and rhinitis as risk factors (respectively, RRR = 1.79, p = 0.001 and RRR = 1.53, p = 0.018). Other coronaviruses were found in 10.8% of children and were associated to pharyngodynia (RRR = 4.94, p < 0.001). Adenovirus, observed in 11.6% of subjects, showed to have fever as risk factor (RRR = 6.44, p < 0.001). Bocavirus was detected in 3.2% of children. In conclusion, our results showed that social isolation measures had an impact on the circulation of RSV and influenza, although children under the age of 2 were most affected by the other respiratory infections. Therefore, this study highlights the need for continuing surveillance for a delayed spread of RSV and other respiratory pathogens.

Case Report: Simil-Appendicitis Presentation May Precede Cardiac Involvement in MIS-C Patient.

Introduction: Multisystem inflammatory syndrome in children (MIS-C) is a new clinical entity characterized by a systemic hyperinflammation triggered by SARS-CoV-2 infection in children and adolescents. This condition could potentially involve all organs with main complications concerning cardiovascular system. Despite up to 90% of patients complain gastrointestinal symptoms (nausea, vomit, and diarrhea), a presentation mimicking acute appendicitis has rarely been reported, and can be the presenting feature of the disease, potentially leading to misdiagnosis and delayed treatment. Case Description: A 15-year-old boy presented to the Emergency Department for a 2-day history of fever, vomiting, and mild abdominal pain. One month before, the patient complained ageusia and anosmia while his mother tested positive for Sars-CoV2 nasopharyngeal swab. At admission, laboratory tests showed leukocytosis with lymphopenia and elevation of inflammatory markers, while cardiac enzymes, electrocardiogram and echocardiography were unremarkable. An abdominal ultrasound displayed a thickening of terminal ileus and cecum with ascites. Because of the worsening abdominal pain and a physical examination suggestive of acute appendicitis, a laparoscopy was performed but no surgical condition was found. After surgery, fever and generalized malaise persisted, so a cardiac evaluation was repeated, showing a relevant increase in inflammatory markers and cardiac enzymes. Electrocardiogram demonstrated a QTc prolongation with mild decrease in left ventricular ejection fraction at echocardiogram. A MIS-C was diagnosed and intravenous immunoglobulin along with a steroid treatment started. After 36 h, the patient presented a complete clinical recovery with fever cessation. Cardiac anomalies normalized in 3 weeks. Conclusion: MIS-C has been defined as a systemic inflammation, involving at least two organs, after a previous SARS-CoV2 infection in children and adolescents. Physicians should be aware that while gastrointestinal manifestations are common, a pseudo appendicitis presentation may also occur, leading to misdiagnosis and delayed treatment. This report suggests that in patients with symptoms suggestive of an acute appendicitis, the presence of lymphopenia, hypoalbuminemia and ultrasound images of terminal ileus inflammation, should raise the suspect for MIS-C even without initial overt signs of cardiac involvement.

Incidence of New-Onset Obstructive Sleep Apnea After Posterior Flap Pharyngoplasty in Children.

INTRODUCTION: Obstructive sleep apnea (OSA) is a well-recognized complication of velopharyngeal insufficiency (VPI) surgery, but studies assessing OSA by means of a respiratory polygraphy (PG) are scarce. The aim of the study was to evaluate the incidence of new-onset OSA after posterior flap pharyngoplasty (PFP). MATERIALS: The postoperative PG of children with VPI who had a normal preoperative PG were analyzed. RESULTS: Eighteen patients (mean age, 9.8 ± 4.8 years; Pierre Robin sequence [n = 5], isolated cleft palate [n = 7], 22q11 deletion [n = 3], and 3 other diagnoses) were included in the study. Mean delay between surgery and the postoperative PG was 11.5 ± 13.5 months. Two patients (11%) developed severe OSA after PFP. One patient with 22q11 deletion developed overt OSA symptoms immediately after surgery with an apnea-hypopnea index (AHI) of 39 events per hour, requiring continuous positive airway pressure (CPAP) therapy. Obstructive sleep apnea improved spontaneously after 10 months, with an AHI of 2 events/h after CPAP weaning. The second patient had a cleft palate associated with a fetal alcohol syndrome and developed OSA symptoms after surgery with an AHI of 18 events/h requiring CPAP therapy. He could be weaned from CPAP 6 months later after a complete section of the pharyngeal flap with an AHI of 6 events/h during spontaneous breathing. CONCLUSIONS: New-onset OSA after PFP in children with VPI who had a normal preoperative PG was uncommon (11%) in the present cohort.

Effect of the measurement of the work of breathing on the respiratory outcome of preterms.

RATIONALE: There are no validated criteria for the choice of the optimal type of noninvasive respiratory support (NRS) and most appropriate settings in preterms. METHODS: The work of breathing (WOB) during oxygen (O2) alone, nasal continuous positive pressure (nCPAP) and high flow nasal cannula (HFNC) was compared in preterm babies (23-30 weeks' gestation, "physiological group") needing any type of noninvasive respiratory support ("baseline" NRS) at 4 weeks of life. Babies were thereafter treated with the NRS associated with the greatest reduction in WOB ("optimal NRS"). The respiratory outcome at 36 weeks" gestation of these babies was compared to a "control" group treated with NRS based on standard noninvasive parameters. Preterm babies were prospectively enrolled in 3 centers and randomized into the "physiological" or "control" group. RESULTS: Thirty babies were randomized. WOB with "baseline" NRS was higher than the "optimal" NRS and the consequent NRS chosen by physicians (p = 0.001). WOB was lower during HFNC than during O2 (p = 0.032) but WOB was comparable between nCPAP and HFNC, and between nCPAP and O2. Notably, WOB was near to normal during spontaneous breathing with O2. Respiratory outcome at 36 week' gestation was comparable between the 2 groups. CONCLUSION: The optimization of NRS by means of the measurement of WOB in preterms requiring any type of NRS at 4 weeks of life was able to decrease the WOB but had no effect on the clinical outcome at 36 weeks' gestation.

Noninvasive Respiratory Support as an Alternative to Tracheostomy in Severe Laryngomalacia.

OBJECTIVES/HYPOTHESIS: To analyze the role of noninvasive respiratory support (NRS) as an alternative to tracheostomy in the management of severe laryngomalacia. STUDY DESIGN: We conducted a monocentric retrospective study in a tertiary pediatric care center. METHODS: All children under the age of 3 years with severe laryngomalacia, treated between January 2014 and December 2019, were included. Patient demographics, medical history, nutrition, surgery, NRS, and outcome were reviewed. Predictors for NRS were analyzed. RESULTS: One hundred and eighty-eight patients were included. Mean age was 4 ± 5 months and mean weight was 4,925 ± 1,933 g. An endoscopic bilateral supraglottoplasty was performed in 183 (97%) patients and successful in 159 (87%). NRS was initiated in 29 (15%) patients at a mean age of 3 ± 2 months (1-11 months): 15 (52%) patients were treated with NRS after surgical failure, 9 (31%) were treated with NRS initiated prior to surgery because of abnormal overnight gas exchange, and 5 (17%) were treated exclusively with NRS due to comorbidities contraindicating an endoscopic procedure. NRS was successfully performed in all patients with a mean duration of 6 ± 11 months. No patient required a tracheostomy. Univariate analysis identified the following predictors of NRS: neonatal respiratory distress (P = .003), neurological comorbidity (P < .001), associated laryngeal abnormality (P < .001), cardiac surgery (P = .039), surgical endoscopic revision (P = .007), and nutritional support (P < .001). CONCLUSION: NRS is a safe procedure, which may avoid a tracheostomy in severe laryngomalacia, in particular, in case of endoscopic surgery failure, respiratory failure before surgery, and/or severe co-morbidity. LEVEL OF EVIDENCE: 3 Laryngoscope, 132:1861-1868, 2022.

The utility of poly(somno)graphy in evaluating children with Chiari malformation type II before and after surgical intervention: a case series.

BACKGROUND: Children with Chiari Malformation type II (CM-II) have an increased risk of sleep apnoea. The aim of the study was to describe the management of patients with CM-II in relation to sleep apnoea syndrome, clinical symptoms and magnetic resonance imaging (MRI) findings. CASE SERIES PRESENTATION: The paper reports 8 consecutive patients with CM-II followed between September 2013 and April 2017. The prevalence of sleep apnoea syndrome was high with 6 out of 8 patients having mild-to-severe sleep apnoea. Patients with severe sleep apnoea syndrome (3 patients) were treated with upper airway surgery and/or noninvasive ventilation. CONCLUSION: Our findings highlight the importance of respiratory polygraphy in the management of patients with CM-ΙΙ. Poly(somno)graphy is recommended in the follow-up care of children with CM-II.

Using continuous nasal airway pressure in infants with craniofacial malformations.

Obstructive sleep apnea (OSA) is common in infants and children with craniofacial malformations. Continuous positive airway pressure (CPAP) represents an effective noninvasive treatment for severe upper airway obstruction in these children, reducing the need of surgery or a tracheostomy. The decision to start CPAP should be discussed by a multidisciplinary team in order to decide the optimal individualized treatment strategy. CPAP initiation depends on patients' clinical characteristics and local practices, with an increase tendency towards an outpatient program. Follow-up and monitoring strategy varies among centers but benefits from the analysis of built-in software data in order to assess objective adherence and breathing parameters, reducing the need of in-hospital sleep studies. The possibility to wean CPAP should be periodically checked after surgical treatment or when spontaneous resolution is suspected. Finally, these infants with craniofacial malformations should have a long term follow up because of the risk of OSA recurrence over time.

Sleep in preadolescents and adolescents with chronic disorders.

BACKGROUND: The aim of the study was to explore the subjective perception of their own sleep and daytime habits in (pre-)adolescents with chronic diseases. METHODS: Self-administered questionnaires exploring daytime and nighttime habits, health behavior, daytime sleepiness, depression and anxiety were fulfilled by the (pre-)adolescents. RESULTS: Hundred sixty one patients with a chronic disease, aged 14.3±2.6 years old, participated to the study. Mean total time in bed was 8h52±1h09 (range 5h00-11h30) on school days (TIBS) and 9h59±1h28 (range 6h00-14h00) on non school days (TIBN), with 11 (7%) adolescents reporting sleeping ≤7 hours during schooldays. The mean sleep time difference between TIBS and TIBN was 67±95 minutes (range -210-330 min), with 33 patients (20%) having a sleep debt>2h, and 38% reporting sleep initiating problems. Patients with cystic fibrosis had the lowest mean TIBS, the highest percentage (37%) of patients with sleep debt>2h. Obese patients were the sleepiest (33%) with 8% having sleep debt. Anxiety and severe depression were observed in 22% and 20% of the patients, respectively, and correlated with fatigue at wake up and daytime sleepiness. CONCLUSIONS: In these (pre-)adolescents with a chronic disease, 20% had sleep debt but sleep duration was reasonable with acceptable respect of sleep hygiene rules.

Continuous positive airway pressure improves work of breathing in pediatric chronic heart failure.

BACKGROUND: Sleep disordered breathing (SDB) is common in adults with chronic heart failure (CHF), but its prevalence in children remains unclear. Continuous positive airway pressure (CPAP) is the treatment of SDB but deleterious hemodynamic effects have been reported. METHODS: We prospectively analyzed SDB in children with CHF and the effect of CPAP on work of breathing (WOB) and cardiac index (CI). Children aged 6 months to 18 years old with CHF due to: 1) dilated cardiomyopathy (DM) with an ejection fraction < 45%, 2) functional single ventricle (SV) or 3) aortic or mitral valve disease awaiting surgery (VD) were eligible for the study. A polysomnography (PSG), measurement of WOB and CI during spontaneous breathing (SB) and CPAP (6, 8 and 10 cmH2O) were performed. RESULTS: Thirty patients with mean age of 6.4 ± 5 years were included (16 DM 16, 10 SV, 4 LV). Twenty (73%) patients had a normal sleep efficiency. Median apnoeas hypopnea index (IAH) was within normal range at 1.6 events/h (0, 14) events/hour. Only one patient had central sleep apnoeas, none had Cheyne-Stokes respiration, and 3 patients had an obstructive AHI between 5 and 10 events/hour. Optimal CPAP level decreased WOB (p = 0.05) and respiratory rate (p = 0.01). CONCLUSIONS: Severe SDB was uncommon in children with CHF. However, CPAP may be beneficial by decreasing WOB and respiratory rate without deleterious effects on CI.

Respiratory polygraphy in subjects with bronchopulmonary dysplasia: a retrospective study.

BACKGROUND: Periodic assessment of the need for oxygen supplementation and/or mechanical ventilation in children with severe bronchopulmonary dysplasia (BPD) is crucial. The aim of the study was to analyze the indications and results of respiratory polygraphies (RP) performed in preterm infants with BPD followed at a tertiary university hospital. METHODS: All subjects < 5-year-old with BPD who had a RP between September and February 2018 were included. The indications and results of RP and consequent medical management were analyzed. RESULTS: Fourteen infants (9 females, mean gestational age 27.6±3.3 weeks) underwent a RP at mean age of 26.4±19.4 months. Five subjects were evaluated for the need of long-term respiratory support (RS), 3 started continuous positive airway pressure (CPAP), 2 were weaned from RS. Four subjects underwent RP for suspected obstructive sleep apnea (OSA), one started on CPAP. Central apnea syndrome (CSA) was confirmed in 2 subjects and one was started on non-invasive ventilation. RP allowed safe tracheostomy decannulation in 2 subjects. Finally, RP was normal in one patient who had a brief resolved unexplained event (BRUE). CONCLUSIONS: RP represents an important tool for the evaluation of children with BPD and leads to important therapeutic decisions.

Non-invasive Ventilation and CPAP Failure in Children and Indications for Invasive Ventilation.

Non-invasive ventilation (NIV) and continuous positive airway pressure (CPAP) are effective treatments for children with severe sleep disordered breathing (SBD). However, some patients may present too severe SDB that do not respond to NIV/CPAP or insufficient compliance to treatment. A careful revaluation of the interface and of ventilator settings should be performed before considering alternative treatments. In patients with obstructive sleep apnea (OSA), alternatives to CPAP/NIV rely on the underlying disease. Ear-nose-throat (ENT) surgery such as adeno-tonsillectomy (AT), turbinectomy or supraglottoplasty represent an effective treatment in selected patients before starting CPAP/NIV and should be reconsidered in case of CPAP failure. Rapid maxillary expansion (RME) is restricted to children with OSA and a narrow palate who have little adenotonsillar tissue, or for those with residual OSA after AT. Weight loss is the first line therapy for obese children with OSA before starting CPAP and should remain a priority in the long-term. Selected patients may benefit from maxillo-facial surgery such as mandibular distraction osteogenesis (MDO) or from neurosurgery procedures like fronto-facial monobloc advancement. Nasopharyngeal airway (NPA) or high flow nasal cannula (HFNC) may constitute efficient alternatives to CPAP in selected patients. Hypoglossal nerve stimulation has been proposed in children with Down syndrome not tolerant to CPAP. Ultimately, tracheostomy represents the unique alternative in case of failure of all the above-mentioned treatments. All these treatments require a multidisciplinary approach with a personalized treatment tailored on the different diseases and sites of obstruction. In patients with neuromuscular, neurological or lung disorders, non-invasive management in case of NIV failure is more challenging. Diaphragmatic pacing has been proposed for some patients with central congenital hypoventilation syndrome (CCHS) or neurological disorders, however its experience in children is limited. Finally, invasive ventilation via tracheotomy represents again the ultimate alternative for children with severe disease and little or no ventilatory autonomy. However, ethical considerations weighting the efficacy against the burden of this treatment should be discussed before choosing this last option.

Home Overnight Gas Exchange for Long-Term Noninvasive Ventilation in Children.

BACKGROUND: The aim of CPAP and noninvasive ventilation (NIV) is to correct sleep-disordered breathing and nocturnal gas exchange. The aim of the study was to analyze the results of a systematic home pulse oximetry ([Formula: see text]) and transcutaneous carbon dioxide ([Formula: see text]) monitoring in stable pediatric subjects on long-term CPAP/NIV or screened for CPAP/NIV weaning, and the consequent interventions in the subjects with abnormal gas exchange. METHODS: The home overnight [Formula: see text] and [Formula: see text] recordings of stable pediatric subjects treated with or weaned from CPAP, NIV, or high-flow nasal cannula between January 2017 and March 2018 were analyzed. RESULTS: A total of 110 recordings, performed in 79 subjects, median age 6 (interquartile range [IQR] 1.5-14) y, were analyzed. Fifty-two recordings (47%) were performed during NIV, 43 (39%) during CPAP, 2 (2%) during high-flow nasal cannula, and 13 (12%) during a spontaneous ventilation weaning trial from ventilatory support. The quality of recording was excellent in 81% of recordings, 5 recordings (5%) had <4 h of recording time, 5 (5%) had artifacts on the [Formula: see text] signal, and 16 (15%) had artifacts on the [Formula: see text] signal. Gas exchange abnormalities were observed in 11 subjects with [Formula: see text] > 50 mm Hg during ≥ 2% of recording time (n = 8), mean [Formula: see text] ≥ 50 mm Hg (n = 6), mean [Formula: see text] < 35 mm Hg (n = 3), and [Formula: see text] < 90% during ≥ 2% of recording time (n = 2). Consequent interventions were (multiple interventions possible): change of device settings (n = 6), change of interface (n = 2), switched to high-flow nasal cannula (n = 1), and a control recording (n = 2). CONCLUSIONS: A significant number (∼12%) of systematic home [Formula: see text] and [Formula: see text] recordings in stable pediatric subjects treated with CPAP/NIV were abnormal and may be corrected by adequate therapeutic interventions.

Sleep-disordered breathing in children with pycnodysostosis.

Upper airway obstruction is a common feature in pycnodysostosis and may cause obstructive sleep apnea (OSA). The aim of our study was to analyze sleep-disordered breathing and respiratory management in children with pycnodysostosis. A retrospective review of the clinical charts and sleep studies of 10 consecutive children (three girls and seven boys) with pycnodysostosis seen over a time period of 10 years was performed. Six patients had severe OSA and/or nocturnal hypoventilation and were started on continuous positive airway pressure (CPAP) as a first treatment at a median age of 3.4 ± 2.6 years, because of the lack of indication of any surgical treatment. Three patients could be weaned after several years from CPAP after spontaneous improvement (two patients) or multiple upper airway surgeries (one patient). Three patients had upper airway surgery prior to their first sleep study with two patients still needing CPAP during their follow-up. Only one patient never developed OSA. Patients with pycnodysostosis are at a high risk of severe OSA, underlying the importance of a systematic screening for sleep-disordered breathing. Multidisciplinary care is mandatory because of the multilevel airway obstruction. CPAP is very effective and well accepted for treating OSA.