Search Results (55)

Background: Children with Down syndrome (DS) are at high risk for a broad spectrum of otorhinolaryngologic (ENT) disorders, including hearing impairment, obstructive sleep apnea (OSA), dysphagia, and language delay. These conditions often coexist and interact with the neurodevelopmental and anatomical features of DS, requiring early identification and coordinated management. Despite the clinical burden, ENT involvement in DS remains under-characterized and inconsistently addressed in care pathways. Methods: A narrative review was conducted to provide an integrative overview of ENT manifestations in pediatric patients with DS. A literature search was performed in PubMed, Scopus, and Web of Science, covering studies published between 1979 and 2025. Articles were included if they addressed ENT disorders in children with DS and met clinical relevance criteria. A total of 45 studies were selected and analysed by study design, focus, and contribution to diagnostic or therapeutic frameworks. Results: The majority of included studies were observational in nature, covering key domains such as conductive hearing loss, chronic otitis media with effusion, sleep-disordered breathing, and feeding/swallowing dysfunction. Several articles emphasized the importance of early audiologic and polysomnographic screening. Gaps in standardization and accessibility of multidisciplinary ENT care were consistently reported. A proposed framework for integrated evaluation is discussed. Conclusions: ENT manifestations in pediatric DS are frequent, multifactorial, and clinically impactful. A multidisciplinary, anticipatory model of care is essential for timely diagnosis and targeted intervention. This review highlights the need to formalize ENT pathways within comprehensive care protocols for children with DS. Full article

Background/Objectives: Pediatric obstructive sleep apnea (POSA) is a long-term sleep disorder characterized by repeated interruptions in breathing during sleep among children. These interruptions result from blockages in the upper airways, causing decreased oxygen intake and disturbed sleep. Assessing parents’ awareness level and the factors affecting their knowledge is vital for enhancing early diagnosis and management of POSA. Methods: This was a cross-sectional study that utilized data from a sample of 838 parents in the Central Region of the Kingdom of Saudi Arabia. The participants completed self-administered online surveys, which ensured anonymity. Results: Only 320 (38.2%) of the parents demonstrated good knowledge about POSA, while the majority, 518 (61.8%), had poor knowledge. Nearly a third, 261 (31.2%), of the parents indicated that their primary sources of information on POSA were the internet and social media platforms. The prevalence of OSA among children was quite significant, with nearly a quarter, 236 (28.2%), of parents having a child affected by the condition. Commonly recognized symptoms included snoring, reported by 425 (50.7%), and mouth breathing, reported by 156 (18.6%). Frequently cited risk factors included obesity, mentioned by 373 (44.5%), and enlarged tonsils, mentioned by 175 (20.9%). A statistically significant association was found between age, gender, marital status, education level, specialization/work, source of knowledge about POSA, knowing someone with OSA, and having a child with OSA and the level of knowledge about POSA (p < 0.05). The study identified several significant factors predicting poor parental awareness of pediatric obstructive sleep apnea (POSA) including gender [AOR = 1.65; 95% CI = 1.220–2.223; p = 0.001], source of knowledge about pediatric obstructive sleep apnea [AOR = 1.35; 95% CI = 1.167–1.572; p < 0.001], and knowing someone with OSA [AOR = 1.92; 95% CI = 1.301–2.832; p = 0.001]. Conclusions: The study revealed that parents in the Central Region had limited knowledge about POSA. There were notable gaps in recognizing and understanding the symptoms of POSA and its impact on children’s mental health and academic performance. This underscores the importance of introducing targeted educational programs and initiatives for both parents and healthcare providers to enhance children’s mental health and overall well-being. Full article

Background/Objectives: Myotonic dystrophy type 1 (DM1) is a rare neuromuscular disorder characterized by respiratory dysfunction that significantly impacts quality of life and longevity. This study aimed to explore the outcomes of pulmonary function tests and sleep-disordered breathing (SDB) workups in children with DM1 and to identify the factors contributing to SDB. Methods: A retrospective study examined patients’ medical records, including genetic analyses, clinical characteristics, and noninvasive pulmonary function testing (PFT), when possible. The Pediatric Sleep Questionnaire (PSQ), arterial blood gases, polygraphy, and overnight transcutaneous capnometry (PtcCO₂) were used to assess SDB. Results: The size of CTG expansion in the DMPK gene directly correlated with the severity of respiratory complications and the need for early tracheostomy tube insertion in 7/20 (35%) patients. A total of 13/20 (65%) children were available for respiratory evaluation during spontaneous breathing. While moderate/severe obstructive sleep apnea syndrome (OSAS) and hypoventilation were confirmed in 4/13 (31%) children, none of the patients had mixed or dominantly central sleep apnea syndrome. There was no correlation between apnea–hypopnea index (AHI) or PtcCO₂ and the presence of SDB-related symptoms or the PSQ score. Although a significant correlation between AHI and PtcCO₂ was not confirmed (p = 0.447), the oxygen desaturation index directly correlated with PtcCO₂ (p = 0.014). Conclusions: While SDB symptoms in children with DM1 may not fully correlate with observed respiratory events or impaired gas exchange during sleep, a comprehensive screening for SDB should be considered for all patients with DM1. Further research into disease-specific recommendations encompassing the standardization of PFT, as well as overnight polygraphic and capnometry recordings, could help to guide timely, personalized treatment. Full article

Introduction: Sleep is a fundamental biological function critical for physical and mental health. Chronic sleep disturbances can significantly impair cognitive, emotional, and social functioning, leading to deficits in attention, alertness, and executive function, alongside increased irritability, anxiety, and depression. For pediatric patients, such disturbances pose additional concerns, potentially disrupting developmental processes and quality of life for both children and their families. Objectives: Emerging evidence suggests a correlation between neurofibromatosis type 1 (NF1) and an increased prevalence of sleep disorders in children. NF1, a genetic condition affecting multiple body systems, including the nervous system, may predispose children to sleep disturbances due to its neurodevelopmental and behavioral impacts. This observational case–control study aimed to explore the association between NF1 and sleep disorders in pediatric patients, comparing the prevalence and patterns of sleep disturbances between NF1 patients and healthy controls. Patients and Methods: The study included 100 children aged 2–12 years, divided into two groups: 50 with NF1 (case group) and 50 children belonging to the control group. NF1 patients were recruited from the Unit of Rare Diseases of the Nervous System in Childhood at the Policlinico “G. Rodolico—San Marco” University Hospital in Catania. Data were collected using a questionnaire completed by parents, assessing parasomnias, breathing-related sleep disorders, and other behavioral and physiological disturbances; these data were compared to a sleep assessment performed using an Apple Watch Ultra. Results: NF1 patients exhibited a significantly higher prevalence of sleep disorders than controls. Notable differences included increased nocturnal hyperhidrosis (48% vs. 10%), bruxism (48% vs. 28%), restless legs syndrome (22% vs. 4%), frequent nighttime awakenings (22% vs. 8%), and sleep paralysis (12% vs. 0%). A finding of poorer sleep quality also emerged from the results of sleep analysis using an Apple Watch Ultra. Conclusions: These findings confirm an elevated risk of sleep disorders in children with NF1, emphasizing the importance of early identification and management to improve quality of life and mitigate cognitive and behavioral impacts. Further research is essential to understand the mechanisms underlying these associations and develop targeted interventions for this population. Full article

Congenital Central Hypoventilation Syndrome (CCHS) is a rare disorder that impairs autonomic breathing control, leading to alveolar hypoventilation and sometimes to central apnoea, predominantly during sleep. Patients typically require nocturnal ventilatory support and alarms to prevent life-threatening desaturation events. However, current alarm systems integrated into pulse oximeters do not provide adequate assistance at home. To address these limitations, we developed an assistive device with customizable multisensory stimulation that activates based on the severity and duration of desaturation episodes. In a multicenter clinical trial involving 4 children and 11 young adults with CCHS, we assessed the device’s effectiveness and the role of arousals over three nights: one baseline and two test nights. The results showed that the device significantly improved awakening rates and enabled faster recovery from desaturations in young adults. However, no such improvements were observed in children compared to the baseline. Arousal events and sleep efficiency were unaffected by the device in both groups. These findings suggest that the device can enhance the safety and autonomy of young adults with CCHS but may be more effective in alerting caregivers in pediatric cases than directly waking children. Further studies are needed to refine its application across different age groups, given the limited sample size. Full article

Background/Objectives: Pediatric sleep-disordered breathing (SDB) can cause behavioral and cognitive problems and even physical growth impairment, but it is often under-recognized. Cleft lip and/or palate (CLP) is a common birth defect and known risk factor for SDB. In this study, we examined the sleep breathing status in infants with unilateral CLP (UCLP) before and after cheiloplasty and palatoplasty. Methods: This prospective before–after study included infants with UCLP who could undergo the sleep breathing test and sleep for >1 h. Their sleep breathing status was assessed using a fiber-based sleep apnea sensor (Fiber-Based Sleep Apnea Syndrome Sensor^®) on the day before surgery and 1–3 d after surgery. We calculated and compared the pre- and postoperative respiratory disturbance index (RDI) following the criteria proposed by the American Academy of Sleep Medicine. Results: The mean RDI significantly improved both after cheiloplasty (from 7.5 ± 4.6 to 2.7 ± 1.4 events/h, p = 0.007) and after palatoplasty (from 4.4 ± 2.3 to 1.7 ± 0.4 events/h, p = 0.010). Conclusions: Cheiloplasty and palatoplasty could improve SDB and reduce its adverse effects on the physical growth and development of infants with UCLP. Full article

Sleep disorders are characterized by impaired quality, timing, and amount of sleep, resulting in daytime distress and functioning. Primary ciliary dyskinesia (PCD) is a rare genetic condition characterized by oto-sino-pulmonary manifestations with multiple comorbidities, including sleep disorders. Background/Objectives: This pilot study aims to assess sleep disorders and neuropsychiatric comorbidities in Puerto Rican patients with the RSPH4A (c.921+3_921+6delAAGT) PCD founder mutation. However, the literature on sleep-related disorders and their neuropsychiatric comorbidities in PCD is limited. Methods: A cohort of fifteen patients with the RSPH4A (c.921+3_921+6delAAGT) founder mutation (six pediatric, nine adults) were evaluated for sleep quality, cognitive, neurodevelopmental history, and mood-related manifestations, followed by diagnostic polysomnography for sleep-disordered breathing and other sleep-related disorder detection. Results: Twelve out of fifteen (12/15, 80%) patients presented with sleep-related disorders, particularly obstructive sleep apnea where the median Pediatric AHI was 1.25/h (IQR: 1.1–1.75/h), T < 90: 0.1 min (IQR: 0–1.9 min) and adult AHI 1.3 (IQR: 0.9–8), T < 90: 0.2 min (IQR: 0–3.5 min). PCD patients also presented complex sleep behaviors, and more than half had sleep-related movement manifestations such as sleep-related Bruxism, PLMS, among others. All pediatric patients with OSA met criteria for an anxiety disorder, with a GAD-7 of 13 (IQR: 10.5–15.8); this association was not clearly seen in adults. Conclusions: Patients with PCD RSPH4A exhibited multiple sleep and neuropsychiatric manifestations, particularly OSA, sleep-related movement disorders and complex sleep behaviors. Further studies are needed to determine if these manifestations result from obstructive breathing, sleep mechanism disruption, or other neurodevelopmental impairment associated with this ciliopathy. Full article

Background: Prenatal factors have been implicated in the likelihood of reporting sleep disorders in infants. The influence of prenatal and pregnancy-related factors on the incidence of brief resolved unexplained events (BRUEs) in infants has not been established. Objectives: This study aims to evaluate the prenatal and pregnancy-related factors that may contribute to the development of BRUEs in infants. Methods: A single-center, observational, and cross-sectional cohort study was conducted on mothers of children presenting to the Pediatric Clinic of the University of Insubria’s Center for the Study of Respiratory Sleep Disorders with BRUEs as infants. The mothers of typically developing children were enrolled as a control group consecutively at their respective outpatient clinics. All mothers were administered comprehensive questionnaires including demographics, past medical histories, and pregnancy-related issues (weight gain, Berlin sleep-disordered breathing score, and insomnia severity index), psychological symptoms, medical history, illnesses, and medications. Results: Infants with BRUEs were delivered at an earlier gestational age. Mothers of infants with BRUEs were more likely to snore during pregnancy and have lower extremity edema during the first trimester, uterine contractions and restless legs syndrome symptoms during the second trimester, and muscle aches and aspirin usage during the third trimester. The insomnia severity index composite score was not different between the control and BRUE groups. Mothers of infants with BRUEs were less likely to report leg cramps, pregnancy-related diarrhea, fatigue, and gastroesophageal reflux. Conclusions: Mothers of infants presenting with BRUEs had more symptoms during pregnancy of snoring and uterine contractions but not insomnia and were less likely to report leg cramps, pregnancy-related diarrhea, fatigue, and gastroesophageal reflux. The reporting of this study conforms with the STROBE statement. Full article

Background: The orthodontist can play an important role in the early detection of sleep-disordered breathing (SDB), aiding in the prevention of dentoskeletal complications and systemic issues. Early intervention supports proper pediatric development, emphasizing the need for SDB screening in orthodontics. SDB involves abnormal breathing during sleep, with obstructive sleep apnea (OSA) in children presenting unique diagnostic challenges compared to adults. Aim: This study aimed to identify children at risk for SDB through a validated screening questionnaire during orthodontic evaluations. Methods: This prospective study recruited children under 12 years of age between July 2023 and July 2024. The Sleep Clinical Record was used to screen for SDB indicators. Results: Among the 48 participants (31 females, 17 males) aged 5–12 years, 69% were identified as being at risk for SDB. Risk factors included oral breathing, nasal obstruction, tonsillar hypertrophy, malocclusion, high Friedman scores, narrow palates, and positive Brouillette phenotypes, all showing significant correlations (p < 0.05). Conclusion: The findings underline the critical importance of early SDB screening in orthodontic settings. These preliminary results encourage further research on larger cohorts to refine diagnostic tools and interventions. Early recognition and management of SDB can significantly enhance systemic health and craniofacial outcomes in pediatric patients. Full article

Background: Obstructive sleep-disordered breathing (oSDB) is a heterogeneous phenotype that is increasing in prevalence worldwide and has many potential comorbidities that could severely affect quality of life. There is a need to identify biomarkers for oSDB and its comorbidities to improve clinical management, particularly in children. Methods: We performed bulk mRNA-sequencing, differential expression analysis, and qPCR replication of selected differentially expressed genes (DEGs) using RNA samples extracted from tonsils of children with oSDB. Two variables were used as classifier, namely, detection of Epstein–Barr virus (EBV) in tonsils and need for continuous positive airway pressure (CPAP) treatment. Standard statistical tests were used to determine associations across clinical, EBV, and DEG variables. Results: Nineteen genes were dysregulated in tonsils that are EBV+ or from children needing CPAP. Of these genes, APOBR was downregulated in both EBV+ and CPAP+ tonsils, and this downregulation was replicated by qPCR in an independent set of pediatric samples. In the tonsils of adult patients with oSDB, APOBR was positively correlated with age, and potentially with diastolic blood pressure. Conclusions: Taken together, APOBR and DEGs in tonsillar tissues may be useful as potential biomarkers of oSDB severity and comorbidity across the lifespan, with APOBR levels being dependent on latent EBV infection. Full article

Background: The aim of this study is to determine the prevalence of nocturnal enuresis (NE) in children with obstructive sleep apnea (OSA), the effect of adenotonsillectomy (AT) and the width of the arches, and to compare them with control children without respiratory problems. Methods: Children from 2 to 12 years old were divided into three groups: children with OSA and NE (n = 51), children with OSA without NE (n = 79), and the control group (n = 168). NE was defined as at least one bedwetting incident per month. Arch widths were measured at the baseline and one year after. OSA was diagnosed by means of polysomnography, and the apnea-hypopnea index (AHI) was obtained. Parents completed the Pediatric Sleep Questionnaire (PSQ) to classify their children into those with and without NE. Results: NE was present in 39.2% of children with OSA compared to 28% in the control group (p = 0.04). After AT, 49% of the children with OSA and NE significantly improved. Both OSA groups had narrower arch widths than the control group (p = 0.012), with the NE group having the narrowest widths. NE is more prevalent in children with OSA and should be considered one of the first signs of breathing disorders. Adenotonsillectomy reduces NE in about half of the affected children. Both arch widths are narrower in children with OSA, particularly in those with NE. Full article

Objective: This study delves into the implications of adenoidectomy for scoliosis progression, investigating the intricate nexus of hypoxia, spinal curvature, and surgical intervention. With adenoidectomy being a common procedure for addressing pediatric sleep-disordered breathing, this research study explores its potential impact on spinal health. Patients and Methods: Employing a retrospective cohort design, this study gathered data from patients who underwent adenoidectomy, including those with scoliosis, between January 2017 and March 2023. Initial and follow-up evaluations involved clinical and radiological assessments, notably measuring the Cobb angle to quantify spinal curvature. Results: This study enrolled 218 patients under 10 years old. Among them, 18 exhibited Cobb angles of 10° or more, with a mean Cobb angle of 12.8°. In the follow-up evaluation, 83% of patients with initial Cobb angles of 10° or more were reached out to, along with 84.6% of those with Cobb angles below 10°. The postoperative follow-up revealed a notable decrease in Cobb angles for most patients, particularly those with an initial Cobb angle exceeding 10°. Conclusions: This study underscores the potential connection between adenoidectomy, hypoxia, and scoliosis regression, highlighting the importance of early intervention for scoliosis management. Despite certain limitations, this investigation lays the foundation for future research involving larger patient cohorts and multifaceted analyses. The observed interactions between airway function, hypoxia, and spinal health open avenues for refining clinical strategies in scoliosis treatment. Full article

Obstructive Sleep Apnea (OSA) is a common disorder affecting both adults and children. It is characterized by repeated episodes of apnea (stopped breathing) and hypopnea (reduced breathing), which result in intermittent hypoxia. We recognize pediatric and adult OSA, and this paper focuses on pediatric OSA. While adults often suffer from daytime sleepiness, children are more likely to develop behavioral abnormalities. Early diagnosis and treatment are important to prevent negative effects on children’s development. Without the treatment, children may be at increased risk of developing high blood pressure or other heart problems. The gold standard for OSA diagnosis is the polysomnography (sleep study) PSG performed at a sleep center. Not only is it an expensive procedure, but it can also be very stressful, especially for children. Patients have to stay at the sleep center during the night. Therefore, screening tools are very important. Multiple studies have shown that OSA screening tools can be based on facial anatomical landmarks. Anatomical landmarks are landmarks located at specific anatomical locations. For the purpose of the screening tool, a specific list of anatomical locations needs to be identified. We are presenting a survey study of the automatic identification of these landmarks on 3D scans of the patient’s head. We are considering and comparing both knowledge-based and AI-based identification techniques, with a focus on the development of the automatic OSA screening tool. Full article

Children with Down syndrome (DS) are at high risk of sleep-disordered breathing (SDB). The American Academy of Pediatrics recommends a polysomnogram (PSG) in children with DS prior to the age of 4. This retrospective study examined the frequency of SDB, gas exchange abnormalities, co-morbidities, and surgical management in children with DS aged 2–4 years old at Seattle Children’s Hospital from 2015–2021. A total of 153 children underwent PSG, with 75 meeting the inclusion criteria. The mean age was 3.03 years (SD 0.805), 56% were male, and 54.7% were Caucasian. Comorbidities included (n, %): cardiac (43, 57.3%), dysphagia or aspiration (24, 32.0%), prematurity (17, 22.7%), pulmonary (16, 21.3%), immune dysfunction (2, 2.7%), and hypothyroidism (23, 30.7%). PSG parameter data collected included (mean, SD): obstructive AHI (7.9, 9.4) and central AHI (2.4, 2.4). In total, 94.7% met the criteria for pediatric OSA, 9.5% met the criteria for central apnea, and 9.5% met the criteria for hypoventilation. Only one child met the criteria for hypoxemia. Overall, 60% had surgical intervention, with 88.9% of these being adenotonsillectomy. There was no statistically significant difference in the frequency of OSA at different ages. Children aged 2–4 years with DS have a high frequency of OSA. The most commonly encountered co-morbidities were cardiac and swallowing dysfunction. Among those with OSA, more than half underwent surgical intervention, with improvements in their obstructive apnea hypopnea index, total apnea hypopnea index, oxygen saturation nadir, oxygen desaturation index, total arousal index, and total sleep duration. This highlights the importance of early diagnosis and appropriate treatment. Our study also suggests that adenotonsillar hypertrophy is still a large contributor to upper airway obstruction in this age group. Full article

This narrative review study investigates the correlations between obesity, allergies, and sleep-disordered breathing in pediatric populations. Searches for pertinent articles were conducted on the Medline PubMed Advanced Search Builder, Scopus, and Web of Science databases from unlimited to April 2024. Sleep-disordered breathing causes repeated upper airway obstructions, leading to apneas and restless sleep. Childhood obesity, which affects around 20% of children, is often associated with sleep-disordered breathing and allergies such as asthma and allergic rhinitis. It is distinguished between diet-induced obesity (resulting from excess of diet and physical inactivity) and genetic obesity (such as is seen in Down syndrome and Prader–Willi syndrome). In children with diet-induced obesity, chronic inflammation linked to weight can worsen allergies and increase the risk and severity of asthma and rhinitis. Furthermore, the nasal congestion typical of rhinitis can contribute to upper respiratory tract obstruction and obstructive sleep apnea. A vicious circle is created between asthma and sleep-disordered breathing: uncontrolled asthma and sleep-disordered breathing can worsen each other. In children with genetic obesity, despite alterations in the immune system, fewer allergies are observed compared to the broader population. The causes of this reduced allergenicity are unclear but probably involve genetic, immunological, and environmental factors. Additional research is necessary to elucidate the underlying mechanisms. The present narrative review study emphasizes the importance of jointly evaluating and managing allergies, obesity, and obstructive sleep apnea in children considering their close interconnection. Full article