Search

Objective: Narcolepsy is a lifelong disease, manifesting with excessive daytime sleepiness and cataplexy, arising between childhood and young adulthood. The diagnosis is typically made after a long delay that burdens the disease severity. The aim of the project, promoted by the "Associazione Italiana Narcolettici e Ipersonni" is to develop Red Flags to detect symptoms for early referral, targeting non-sleep medicine specialists, general practitioners, and pediatricians.Materials and Methods: A multidisciplinary panel, including patients, public institutions, and representatives of national scientific societies of specialties possibly involved in the diagnostic process of suspected narcolepsy, was convened. The project was accomplished in three phases. Phase 1: Sleep experts shaped clinical pictures of narcolepsy in pediatric and adult patients. On the basis of these pictures, Red Flags were drafted. Phase 2: Representatives of the scientific societies and patients filled in a form to identify barriers to the diagnosis of narcolepsy. Phase 3: The panel produced suggestions for the implementation of Red Flags.Results: Red Flags were produced representing three clinical pictures of narcolepsy in pediatric patients ((1) usual sleep symptoms, (2) unusual sleep symptoms, (3) endocrinological signs) and two in adult patients ((1) usual sleep symptoms, (2) unusual sleep symptoms). Inadequate knowledge of symptoms at onset by medical doctors turned out to be the main reported barrier to diagnosis.Conclusions: This report will hopefully enhance knowledge and awareness of narcolepsy among non-specialists in sleep medicine in order to reduce the diagnostic delay that burdens patients in Italy. Similar initiatives could be promoted across Europe. [ABSTRACT FROM AUTHOR]

Background: Rett syndrome is a progressive neurological disorder associated to several comorbidities that contribute significantly to impair lung function. Respiratory morbidity represents a major cause of death in this population. Little is known about the benefit of noninvasive ventilation., Methods: We retrospectively enrolled patients with Rett syndrome who underwent a pneumological evaluation combined with a cardiorespiratory polygraphy and/or a pulse oximetry and capnography from 2012 to 2022., Results: Medical records of 11 patients with Rett syndrome, mean age 13 ± 6 years, were evaluated. Most patients presented with both epilepsy and scoliosis. Five patients showed a pathologic sleep study and/or impaired night gas exchange: mean obstructive apnea-hypopnea index was 4 ± 3 events/hour; mean and minimal SpO 2 were, respectively, 93% ± 2% and 83% ± 6%, while mean and maximal transcutaneous carbon dioxide monitoring (PtcCO 2 ) were, respectively, 51 ± 5 mm Hg and 55 ± 8 mm Hg; and mean oxygen desaturation index was 13 ± 11 events/hour. These patients started noninvasive ventilation with clinical benefit and improved gas exchange mostly in terms of PtcCO 2 (mean PtcCO 2 51 ± 5 mm Hg before and 46 ± 6 mm Hg after noninvasive ventilation)., Conclusions: Noninvasive ventilation is a suitable option for patients with Rett syndrome., Competing Interests: Declaration of competing interest The authors declare no conflict of interest., (Copyright © 2024. Published by Elsevier Inc.)

Background: Spinal muscular atrophy (SMA) is a severe neuromuscular disorder, the phenotype of the disease is caused by the mutation of the SMN1 (survival motor neuron 1) gene which encodes for the SMN protein. Innovative treatments for SMA have become available and the first molecule approved is Nusinersen, an antisense oligonucleotide that increases the production of SMN protein. Nusinersen has been shown to be associated with a significant motor improvement and an increase of the event-free survival. For these reasons the aim of the present study is to assess if Nusinersen is able modify sleep architecture and microstructure and to improve sleep structure in these patients., Methods: Sixteen patients affected by SMA1 were enrolled in the study (4 boys, 12 girls; median age 72.5 months, intelligence quotient range 24-84). All patients underwent complete nocturnal PSG before the start of the treatment trough intrathecal injections with Nusinersen (T0) and after the fifth infusion (day 180, T180). PSG recordings were visually scored and interpreted according to the indications of the American Academy of Sleep Medicine (AASM) and and microstructure by means of the Cyclic Alternating Pattern (CAP)., Results: After 6 months therapy we found a significantly reduced sleep latency and a significantly increased sleep efficiency. Regarding sleep microstructure parameters (CAP), we did not find any significant change after therapy however, it is worth mentioning that a moderate effect size was observed for the increase in CAP A3 index., Conclusions: We observed short-term effects of Nusinersen on sleep with an improvement in sleep efficiency and reduction in sleep onset latency; regarding sleep microstructure, a moderate effect size was found for the number of CAP A3 subtypes that slightly increased, possibly indicating a slightly higher arousability. This finding points at a probably overall better sleep pattern organization associated with the treatment, but they need to be confirmed by larger studies with patients treated earlier in life and for a longer period., Competing Interests: Declaration of competing interest Authors declare none., (Copyright © 2023 Elsevier B.V. All rights reserved.)

Children with medical complexity (CMC) are patients with one or more complex chronic conditions dependent on medical technologies. In our unit (Pediatric Pulmonology and Respiratory Intermediate Care Unit, Department of Pediatrics, "Bambino Gesù" Children's Hospital and Research Institute), we regularly follow-up CMC patients, particularly children on long-term, invasive (IMV) or noninvasive (NIV), ventilation. Children suffering from chronic diseases and with medical complexity have lost the possibility to go to the hospital during the COVID-19 pandemic. The aim of this article is to describe our experience with telemedicine (teleconsultation [TC] and telemonitoring of ventilator [TM]) in CMC on ventilation. We presented 21 children on long-term ventilation (NIV or IMV) whose planned hospital admission was postponed due to lockdown. A total of 12 healthcare problems were detected during scheduled TCs. Only one problem was not solved by our remote intervention. Specifically, TM has allowed us to change the ventilator parameters and to monitor patients on ventilation remotely. In conclusion, the use of telemedicine in CMC ventilated patients resulted in a feasible tool to avoid in-person visits during the pandemic., (© 2021 Wiley Periodicals LLC.)

Information gathered with built-in software (BIS) on new ventilators allow clinicians to access long-term noninvasive ventilation (LTNIV) data. Nevertheless, few evidence are available in literature that highlight potential strengths and disadvantages of using BIS in pediatrics. We aim to evaluate the use of BIS in a cohort of 90 children on LTNIV in our unit, focusing mainly on adherence, air leaks, and residual sleep events. We found that caregivers' perception of ventilator use is independent from objective adherence (P = .137). Furthermore, we failed to find any predictors of adherence. As regards air leaks, we found that pre-scholars' (0-6 years old) total air leaks are lower than teenagers' (more than 12 years old) (P < .05). Multiple regressive analysis showed that age at the beginning of therapy is a predictor of total air leaks: prescholars are associated with lower values (P < .05), while scholars (6-12 years old) are associated with higher values (P < .05). Finally, we explored the validity of BIS automatic scoring of sleep events (AHI BIS ) as compared with the manual scoring of polygraphy (AHI PG ). AHI BIS is within a range of 3.98 from AHI PG in 95% of cases, with a 64% of sensitivity and a 67% of specificity in identifying a pathological state. The disagreement between the two methods seems to increase for high AHI values. In conclusion, data gathered by BIS are a useful support tool for the clinician in assessing the course of LTNIV. However, clinicians must be aware of the several limitations of built-in software, especially in pediatrics., (© 2020 Wiley Periodicals LLC.)

Non-invasive ventilation is increasingly used in children for acute and chronic respiratory failure. Ventilators available for clinical use have different levels of complexity, and clinicians need to know in detail their characteristics, setting variables, and performances. A wide range of ventilators are currently used in non-invasive ventilation including bi-level ventilators, intermediate ventilators, and critical care ventilators. Simple or advanced continuous positive airway pressure devices are also available. Differences between ventilators may have implications on the development of asynchronies and air leaks and may be associated with discomfort and poor patient tolerance. Although pressure-targeted (controlled) mode is preferable in children because of barotrauma concerns, volume-targeted (controlled) ventilators are also available. Pressure support ventilation represents the most used non-invasive ventilation mode, as it is more physiological. The newest ventilators allow the clinicians to use the hybrid modes that combine the advantages of volume- and pressure-targeted (controlled) ventilation while limiting their drawbacks. The use of in-built software may help clinicians to optimize the ventilator setting as well as to objectively monitor patient adherence to the treatment. The present review aims to help the clinician with the choice of the ventilator and its ventilation modalities to ensure a successful non-invasive ventilation program., (Copyright © 2020 Pavone, Verrillo, Onofri, Caggiano and Cutrera.)

Background: Children with chronic respiratory failure and/or sleep disordered breathing due to a broad range of diseases may require long-term ventilation to be managed at home. Advances in the use of long-term non-invasive ventilation has progressively leaded to a reduction of the need for invasive mechanical ventilation through tracheostomy. In this study, we sought to characterize a cohort of children using long-term NIV and IMV and to perform an analysis of those children who showed significant changes in ventilatory support management., Methods: We performed a retrospective cohort study of pediatric (within 18 years old) patients using long-term, NIV and IMV, hospitalized in our center between January 1, 2000 and December 31, 2017. A total of 432 children were included in the study. Long Term Ventilation (LTV) was defined as IMV or NIV, performed on a daily basis, at least 6 h/day, for a period of at least 3 months., Results: 315 (72.9%) received non-invasive ventilation (NIV); 117 (27.1%) received invasive mechanical ventilation (IMV). Children suffered mainly from neuromuscular (30.6%), upper airway (24.8%) and central nervous system diseases (22.7%). Children on IMV were significantly younger when they start LTV [NIV: 6.4 (1.2-12.8) years vs IMV 2.1 (0.8-7.8) years] (p < 0.001)]. IMV was likely associated with younger age at starting ventilatory support (aOR 0.9428; p = 0.0220), and being a child with home health care (aOR 11.4; p < 0.0001). Overtime 39 children improved (9%), 11 children on NIV (3.5%) received tracheostomy; 62 children died (14.3%); and 74 children (17.1%) were lost to follow-up (17.8% on NIV, 15.4% on IMV)., Conclusions: Children on LTV suffered mainly from neuromuscular, upper airways, and central nervous system diseases. Children invasively ventilated usually started support younger and were more severely ills.

Rationale: Long-life ventilatory assistance is necessary for survival in pediatric patients with congenital central hypoventilation syndrome (CCHS). Invasive mechanical ventilation (IMV) through tracheostomy is the most used method, especially in the first years of life when the central nervous system is maturing. Nevertheless, IMV via tracheostomy is not ideal because tracheostomy in children is associated with impaired speech and language development, also frequent infections of the lower airway tract occur., Objective: Only few reports describe the transition from IMV to the noninvasive method, ending with decannulation in CCHS affected patients. We aim to provide our experience regarding decannulation program in CCHS affected children and to describe a proposal of an algorithm concerning transition from invasive to noninvasive ventilation (NIV) in CCHS patients., Methods: The study has been conducted retrospectively. Four children from two European centers underwent tracheostomy removal and decannulation, upon request of patients and their families., Results: All children were trained to carry out tracheostomy capping before decannulation and underwent endoscopic assessment of upper and lower airway. Subsequently they started training to NIV at mean age of 106.25 months (±40.7 SD). Decannulation occurred 12 months after and no patients needed the reintroduction of tracheal cannula in either short or long term follow up., Conclusions: our study shows that effective liberation from IMV, the transition to NIV and decannulation are possible in CCHS affected children and offers a proposal of an algorithm which can be applied in selected centers., (© 2019 Wiley Periodicals, Inc.)

Background: Long-term mechanical ventilation (LTV) with non-invasive ventilation (NIV) prolongs survival in patients with Neuromuscular Diseases (NMDs). Transition from paediatric to adult healthcare system is an undervalued and challenging issue for children with chronic conditions on mechanical ventilation., Methods: this retrospective study aims to compare issues of young adults in age to transition to adult care (≥ 15 years old) affected by NMDs on NIV in two different Paediatric Respiratory Units in two different countries: Bambino Gesù Children's Hospital, Research Institute, (Rome, Italy) (BGCH) and the Paediatric Respiratory Unit of the Royal Brompton Hospital (London, UK) (RBHT)., Results: The median (min-max) age at starting ventilation was significantly different in the two groups (16 years old vs 12, p = 0.0006). We found significant difference in terms of median age at the time of observation (18 (15-22) vs 17 (15-19) years, p = 0.0294) and of type of referral (all the patients from the BGCH group were referred to paediatric services (n = 15, 100%), median age 18 (15-22); only 6 patients, in the RBHT group, with a median age 15.50 (15-17) years, were entirely referred to paediatric service). We found different sleep-disordered breathing assessments 6 full Polysomnographies, 7 Cardio-Respiratory Polygraphies and 2 oximetry with capnography (SpO 2 -tcCO 2 ) studies in the BCGH group, while all patients of RBHT group were assessed with an SpO 2 -tcCO 2 study. All patients from both groups underwent multidisciplinary assessment., Conclusions: In conclusion, patients with NMDs on NIV in age to transition to adult require complex multidisciplinary management: significant efforts are needed to achieve the proper transition to adult care.

Objective: Changes of sleep architecture have been reported in children with Spinal Muscular Atrophy type 2 (SMA2), mainly represented by a decrease of arousability. No studies have evaluated the effect of long-term ventilation on sleep parameters in these children. The aim of this study was to evaluate the effects of long-term non-invasive positive pressure ventilation (LTNPPV) on sleep architecture and to assess the residual differences from normal controls., Methods: Nine consecutive children with SMA2 underwent two distinct polysomnographic (PSG) studies, one in spontaneous breathing, and subsequently after LTNPPV. The results were then compared to 15 age-matched controls., Results: SMA2 patients showed only slightly modified sleep architecture on LTNPPV: increased stage N2% and decreased number of awakenings, while several significant differences persisted between SMA2 patients on LTNPPV and controls (decreased total sleep time, number of awakenings, sleep efficiency, and percentage of REM sleep). Sleep microstructure, evaluated by means of the Cyclic alternating pattern (CAP) showed only marginal changes on LTNPPV (small shortening of CAP A1 subtype duration and small increase in CAP A3 index). Conversely, CAP parameters on LTNPPV showed significant differences between SMA2 patients vs. controls, with increased A1 subtype percentage and decreased percentage of A2 and A3 subtypes., Conclusions: This is the first study in children affected by SMA2 reporting data on sleep microstructure and their changes after LTNPPV. We found persisting, small but important changes in sleep microstructure during LTNPPV in these children, suggesting that this treatment only partially improves their arousability., (Copyright © 2019 Elsevier B.V. All rights reserved.)

Background: Tracheobronchomalacia, defined as variable collapse of the airways, has been recognized as an important cause of respiratory morbidity but still widely underdiagnosed. Bronchoscopy is still considered as the gold standard, but numerous limitations are known, especially for fragile sick children. Moreover, information on parenchymal lung disease cannot be described. There is a real need for a reliable, non-invasive test to help detection of airway and parenchymal malformations in children, specifically when bronchoscopy cannot be performed., Methods and Results: 34 paediatric patients underwent cine multidector CT for ongoing respiratory symptoms and were included. All CT images were of good quality and sedation was never needed. Airway disease such as trachea-broncomalacia with/without stenosis was described in 53% with the first being more frequent. Bronchomalacia alone was described in 10 patients and in 4 patients was associated with tracheomalacia. Moreover, CT allowed identification of parenchymal disease in 10 patients. Airways stenosis alone was detected in seven patients. The majority of patients (85%) underwent also bronchoscopy for clinical decision. The agreement between CT and bronchoscopy was explored. The two examinations did not agree only in two cases. CT dynamic showed an excellent sensitivity of 100% (81.47-100 %), a great specificity of 82% (48.22-97.72 %), NPV 100%, and PPV 90% (72-96.9 %)., Conclusion: Dynamic CT results an effective and highly sensitive diagnostic exam for children with tracheo-bronchomalacia. CT is especially indicated for those small and fragile patients that cannot undergo an invasive investigation. Moreover, CT allows a detailed evaluation both of the airways and the lungs which is useful for the clinical management., (© 2017 Wiley Periodicals, Inc.)

Background: Seasonal variability on obstructive sleep apnea has already been studied by polysomnography in children. Winter and spring season emerged as critical periods. No data are currently available for pulse oximetry performed at home. The aim of our study was to evaluate the effect of seasonality and age on the results of at-home pulse oximetry performed in children referred for suspected OSA., Methods: We retrospectively studied 781 children (64.3% Males), aged 4.9 ± 2.5 years. For all patients, we evaluated both pulse oximetry metrics and the McGill Oximetry Score. Variables for seasonal groups were assessed using Kruskal-Wallis test. A logistic regression model was performed to assess the relationship between patients' main characteristics, season period and the likelihood to have an abnormal McGill Oximetry Score., Results: Patients recorded during winter were significantly younger (p < 0.02), nadir SpO 2 was significantly lower (p < 0.002) and DI 4 significantly higher than during others seasons (p < 0.005). Moreover, patients recorded during winter were nearly 2 times more likely to have an abnormal MOS (aOR 1.949). The logistic regression showed that also younger age (p < 0.0001) was associated with a higher risk to find an abnormal pulse oximetry., Conclusions: In our study, the winter season confirms to be a critical period for pulse-oximetry and it should be taken into account by clinicians for a correct interpretation of tests. Our data show that also younger age affects the prevalence of abnormal at-home pulse oximetry in children.

Background and Objectives: Infants with congenital myasthenic syndrome (CMS) are at risk of brief resolved unexplained event (BRUE) and sleep-disordered breathing. The aim of the study was to explore sleep in infants with CMS with a particular focus on heart rate (HR) variability., Methods: Overnight polygraphy was performed and HR variations associated with respiratory events were analysed. Bradycardia and tachycardia were defined as a variation of HR of ±10 bpm from baseline and analysed as events/hour., Results: The data of 5 infants with CMS were analysed. Two patients had known mutations (COLQ and RAPSN). One patient had a tracheostomy. The apnoea-hypopnoea index (AHI) was abnormal in all the patients (range 2.8-47.7 events/h), with the highest AHI being observed in the 3 youngest infants. Nocturnal transcutaneous gas exchange was normal in all patients except the tracheostomised patient. Mean HR was 114 ± 23 bpm with a mean HR index of 4.5 ± 4.3 events/h. The amplitudes of HR variations (bradycardia or tachycardia) were around 15-20 bpm, regardless of the type of respiratory event, and comparable between patients. No correlations were found between HR indexes or variations and the type and mean duration of respiratory events. Ventilatory support was initiated in 3 infants immediately after the sleep study because of a high AHI and/or nocturnal hypoventilation., Conclusions: All 5 infants had an abnormal AHI with younger infants having the highest AHI. Three infants required ventilatory support after the polygraphy, underlining its clinical usefulness. No significant abnormalities of HR were observed during the sleep studies., (Copyright © 2017 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.)

Nocturnal pulse oximetry has a high positive predictive value for polysomnographically diagnosed obstructive sleep apnoea (OSA) in children. When significant adenotonsillar hypertrophy is diagnosed, adenotonsillectomy (T&A) represents a common treatment for OSA in children. We investigated the role of pulse oximetry in predicting those patients, referred for suspected OSA, who subsequently needed T&A. At-home nocturnal pulse oximetry was performed on 380 children (65.7% males), median age 4.1(IRQ 3.0-5.6) years, referred for suspected OSA, and data were retrospectively analysed. For each recording McGill Oximetry Score (MOS) was categorized. Mean pulse rate (PR) z-score and pulse rate variability (PRV)-corrected (PRSD/meanPR) were significantly higher in children with abnormal MOS. Both parameters were significantly higher in subjects who underwent T&A compared with those not surgically treated. Both DI 4 and PRV corrected showed a negative correlation with the elapsed time between pulse oximetry recordings and T&A. The logistic regression model showed a strong effect of an abnormal MOS as a predicting factor for T&A (adjusted odds ratio 19.7)., Conclusions: In our study, children with OSA who subsequently needed T&A showed higher PRV compared to those without surgical indication. Children with abnormal MOS were nearly 20 times more likely to undergo T&A. What is Known: • Nocturnal pulse oximetry has a high positive predictive value for polysomnographically diagnosed obstructive sleep apnoea in children. • When significant adenotonsillar hypertrophy is diagnosed, adenotonsillectomy represents a common treatment for OSA in children. What is New: • An abnormal pulse oximetry highly predict the indication for adenotonsillectomy. • We suggest the use of at-home pulse oximetry as method to predict prescription of adenotonsillectomy, and this may be useful in contexts where polysomnography is not readily available.

Objective: There have been few published reports on the sleep patterns of patients with spinal muscular atrophy (SMA) type 2, and none on sleep microstructure. The aim of this study was to analyze sleep architecture and microstructure in a group of children with SMA type 2, compared with age-matched and sex-matched controls., Methods: Seventeen SMA type 2 children (seven males, mean age 4.2 years) and 12 controls (five males, mean age 5.0 years) underwent full polysomnography to evaluate sleep architecture and microstructure by means of the Cyclic Alternating Pattern (CAP)., Results: Compared with the control children, the SMA type 2 patients showed a mild increase in the apnea/hypopnea index. Sleep was characterized by a decrease in the number of sleep stage shifts per hour, of percentage of stage N3, of stage R, and of sleep efficiency. On the contrary, significant increases of awakenings per hour, wake after sleep onset, and percentage of stage N1 were found. The CAP analysis revealed a significant increase in the percentage of A1 CAP subtypes, a reduction of that of A3 subtypes, and of A2 and A3 indexes., Conclusions: The results indicated an abnormality of sleep macrostructure and microstructure in SMA type 2 patients, which was characterized by a reduction of A2 and A3 subtypes (low and high power arousals), supporting the concept of a decreased arousability in SMA type 2 patients. Similar to a previous report on SMA type 1, the findings might be additional proof of central nervous system involvement, although these alterations are less severe than those observed in infants with SMA type 1., (Copyright © 2016 Elsevier B.V. All rights reserved.)

Objective: Few reports on sleep patterns of patients with spinal muscular atrophy type 1 (SMA1) have been published and none on sleep microstructure. The aim of this study was to analyze sleep architecture and microstructure in a group of infants with SMA1, compared with age- and sex-matched controls., Methods: Twelve SMA1 patients (six males, mean age 5.9 months) and 10 controls (five males, mean age 4.8 months) underwent full polysomnography to evaluate their sleep architecture and microstructure by means of the cyclic alternating pattern (CAP)., Results: Compared with control children, SMA1 patients showed increased sleep latency and apnea/hypopnea index. CAP analysis revealed a significant increase in the percentage of A1 CAP subtypes, a reduction of that of A3 subtypes and of A2 and A3 indexes (number/h), indicating a dysfunction of the arousal system in these patients., Conclusion: The results indicate the presence of an abnormality of sleep microstructure in SMA1 patients, characterized by a reduction of A2 and A3 CAP subtypes. We hypothesize that SMA1 patients have reduced arousability during non-rapid eye movement sleep, which could be interpreted as additional evidence of central nervous system involvement in this disease., (Copyright © 2014 Elsevier B.V. All rights reserved.)