Developmental outcome of electroencephalographic findings in encephalopathy.

haploinsufficiency results in a developmental and epileptic encephalopathy (DEE) causing generalized epilepsies accompanied by a spectrum of neurodevelopmental symptoms. Concerning interictal epileptiform discharges (IEDs) in electroencephalograms (EEG), potential biomarkers have been postulated, including changes in background activity, fixation-off sensitivity (FOS) or eye closure sensitivity (ECS). In this study we clinically evaluate a new cohort of 36 SYNGAP1-DEE individuals.

Sleep breathing disorders in pediatric patients with spinal muscular atrophy 2.

Objectives: The study is aimed to analyze both sleep architecture and prevalence of sleep-disordered breathing (SDB), in a group of patients with type 2 spinal muscular atrophy (SMA), considering motor dysfunction, and compare them with age-matched controls.

Methods: Eighteen SMA type 2 patients (nine males median age 9.5 (4-17) years) and eighteen controls (fourteen males, median age 8,5 (1-16) years) underwent nocturnal polysomnography.

International Consensus Document on Obstructive Sleep Apnea.

The main aim of this international consensus document on obstructive sleep apnea is to provide guidelines based on a critical analysis of the latest literature to help health professionals make the best decisions in the care of adult patients with this disease. The expert working group was formed primarily of 17 scientific societies and 56 specialists from a wide geographical area (including the participation of 4 international societies), an expert in methodology, and a documentalist from the Iberoamerican Cochrane Center. The document consists of a main section containing the most significant innovations and a series of online manuscripts that report the systematic literature searches performed for each section of the international consensus document.

Prevalence of sleep-related breathing disorders in children with malocclusion.

Background: The paediatric population has a high incidence of sleep-related breathing disorders (SRBD). A notable risk factor is the presence of craniofacial abnormalities. The objective of the study was therefore to survey the prevalence of SRBD in patients presenting for interceptive treatment.

Nocturnal Oximetry-based Evaluation of Habitually Snoring Children.

Rationale: The vast majority of children around the world undergoing adenotonsillectomy for obstructive sleep apnea-hypopnea syndrome (OSA) are not objectively diagnosed by nocturnal polysomnography because of access availability and cost issues. Automated analysis of nocturnal oximetry (nSp), which is readily and globally available, could potentially provide a reliable and convenient diagnostic approach for pediatric OSA.

Methods: Deidentified nSp recordings from a total of 4,191 children originating from 13 pediatric sleep laboratories around the world were prospectively evaluated after developing and validating an automated neural network algorithm using an initial set of single-channel nSp recordings from 589 patients referred for suspected OSA.

Variants in C-reactive protein and IL-6 genes and susceptibility to obstructive sleep apnea in children: a candidate-gene association study in European American and Southeast European populations.

Background: Preliminary evidence indicates that variants of the C-reactive protein (CRP) and IL-6 genes might be associated with the presence of obstructive sleep apnea (OSA) in childhood. Thus a candidate-gene association study was conducted to investigate the association of four variants of the CRP gene (1444C/T, -717T/C, 1861C/T, and 1919A/T) and two variants of the IL-6 gene (-174G/C and 597G/A) with OSA in a cohort of European American and Greek children.

Methods: The genetic risk effects were estimated based on the odds ratio (OR) of the allele contrast and the generalized odds ratio (ORG), which is a model-free approach.

Macrophage migration inhibitory factor gene polymorphisms and plasma levels in children with obstructive sleep apnea.

Introduction: Obstructive sleep apnea (OSA) is associated with increased risk for cardiovascular and metabolic dysfunction in both adults and children. In adults with OSA, serum levels of macrophage migration inhibitory factor (MIF) are elevated. Therefore, we assessed plasma MIF levels and MIF allelic variant frequencies in children with and without OSA (NOSA).

DNA methylation in inflammatory genes among children with obstructive sleep apnea.

Background: Pediatric obstructive sleep apnea (OSA) leads to multiple end-organ morbidities that are mediated by the cumulative burden of oxidative stress and inflammation. Because not all children with OSA exhibit increased systemic inflammation, genetic and environmental factors may be affecting patterns of DNA methylation in genes subserving inflammatory functions.

Methods: DNA from matched children with OSA with and without high levels of high-sensitivity C-reactive protein (hsCRP) were assessed for DNA methylation levels of 24 inflammatory-related genes.

Endothelial dysfunction in children without hypertension: potential contributions of obesity and obstructive sleep apnea.

Background: Endothelial dysfunction can develop in the context of both obesity and obstructive sleep apnea (OSA) in children. However, the potential interactions between OSA and obesity have not been defined.

Methods: Children who were prepubertal and nonhypertensive were recruited.

Cognitive function in prepubertal children with obstructive sleep apnea: a modifying role for NADPH oxidase p22 subunit gene polymorphisms?

Pediatric obstructive sleep apnea (OSA) may lead to neurocognitive dysfunction, but not in everyone affected. The frequencies of NADPH oxidase (NOX) polymorphisms in the p22phox subunit were similar between children with OSA and controls, except for rs6520785 and rs4673, the latter being significantly more frequent among the OSA children without deficits than with deficits (p<0.02).

Fatty-acid binding protein 4 gene polymorphisms and plasma levels in children with obstructive sleep apnea.

Introduction: Obstructive sleep apnea (OSA) is associated with increased risk for metabolic syndrome in both adults and children. In adults with OSA, serum levels of fatty acid binding protein 4 (FABP4) are elevated and associated with the degree of metabolic insulin resistance, independent of obesity. Therefore, we assessed plasma FABP4 levels and FABP4 allelic variants in obese and non-obese children with and without OSA.

[Comorbidities of sleep-disordered breathing in children].

Sleep-related respiratory disorders in children, especially childhood sleep apnea-hypopnea syndrome, are associated with a wide range of comorbidities affecting the central nervous system, cardiovascular and metabolic systems, and growth. The two most important factors contributing to the physiopathology of this disorder are intermittent hypoxia and sleep fragmentation, which seem to cause the systemic inflammatory response resulting in these end-organ consequences.

Peripheral blood leukocyte gene expression patterns and metabolic parameters in habitually snoring and non-snoring children with normal polysomnographic findings.

Background: Children who snore but do not have gas exchange abnormalities or alterations of sleep architecture have primary snoring (PS). Since increasing evidence suggest that PS may be associated with morbidity, we hypothesized that assessing genome-wide gene expression in peripheral blood leukocytes (PBL) will identify a distinct signature in PS children.

Methods: Children (aged 4-9 years) with and without habitual snoring and a normal PSG were designated as either PS or controls.

Insulin sensitivity, serum lipids, and systemic inflammatory markers in school-aged obese and nonobese children.

The impact of obesity as a systemic low-grade inflammatory process has only partially been explored. To this effect, 704 community-based school-aged children (354 obese children and 350 age-, gender-, and ethnicity-matched controls) were recruited and underwent assessment of plasma levels of fasting insulin and glucose, lipids, and a variety of proinflammatory mediators that are associated with cardiometabolic dysfunction. Obese children were at higher risk for abnormal HOMA and cholesterol levels.

TNF-α gene polymorphisms and excessive daytime sleepiness in pediatric obstructive sleep apnea.

Objective: To assess sleepiness, TNF-α plasma levels, and genomic variance in the TNF-α gene in children with obstructive sleep apnea (OSA).

Study Design: Children being evaluated for OSA (n = 60) and matched control children (n = 80) were assessed with a modified Epworth Sleepiness Scale questionnaire and underwent a blood draw the morning after nocturnal polysomnography. TNF-α plasma concentrations were assayed using ELISA, and genomic DNA was extracted.

Sleep measures and morning plasma TNF-alpha levels in children with sleep-disordered breathing.

Background: Sleep disordered breathing in children is associated with severity-dependent increases in excessive daytime sleepiness (EDS). TNF-alpha is an inflammatory cytokine that has been implicated in EDS. Since, at any given level of apnea-hypopnea index, there is significant variability in EDS, we hypothesized that morning tumor necrosis factor (TNF)-alpha plasma levels may provide a biologic correlate of EDS.

Inefficient or insufficient encoding as potential primary deficit in neurodevelopmental performance among children with OSA.

Memory (M) impairments have been suggested in pediatric Obstructive Sleep Apnea along with attention and executive (AE), language (L), and visuospatial (V) dysfunctions. NEPSY assessment of children aged 5-9 years who were either healthy (N = 43), or who had OSA without L, V, AE (OSA(-), N = 22) or with L (N = 6), V (N = 1), AE (N = 3) (OSA(+), N = 10) dysfunctions revealed no gross memory problems in OSA; however, over the three learning trials of cross-modal association learning of name with face, the OSA(-) progressively improved performance, whereas the OSA(+) failed to progress. No within-group differences between immediate and delayed memory tasks were apparent.

Sleep-disordered breathing and verbal skills in school-aged community children.

Sleep-disordered breathing (SDB) has been repeatedly associated with neurocognitive deficits in children. However, impairments in verbal skills have been inconsistently reported. The effects of SDB on verbal skills of 76 age-, gender, ethnicity, and maternal education matched groups of children with habitual snoring, but normal overnight sleep studies (HS), and children with significant SDB were compared to non-snoring healthy controls.

Eye movement during REM sleep in children with attention deficit hyperactivity disorder.

The current study examined eye movements during rapid eye movement (REM) sleep of children ages 6-10 with attention deficit hyperactivity disorder (ADHD) and a control group without any known medical or psychiatric diagnoses. Electro-ocular recordings from archived polysomnograms were evaluated. An in-depth analysis revealed significantly lower frequency, higher amplitude eye movement in those with ADHD (N = 13) compared to the control group (N = 16).

Uric acid excretion in North American and Southeast European children with obstructive sleep apnea.

Background And Objectives: Responses to nocturnal hypoxemia accompanying sleep-disordered breathing (SDB) may vary in different populations. Aims of this study were to (1) assess whether severity of SDB is related to uric acid excretion in North American and Southeast European children and (2) evaluate the interaction between nocturnal hypoxemia and country of children's origin in uric acid excretion.

Methods: Consecutive US and Greek children with snoring who were referred for polysomnography were recruited.

Fatty-acid binding protein 4 gene variants and childhood obesity: potential implications for insulin sensitivity and CRP levels.

Introduction: Obesity increases the risk for insulin resistance and metabolic syndrome in both adults and children. FABP4 is a member of the intracellular lipid-binding protein family that is predominantly expressed in adipose tissue, and plays an important role in maintaining glucose and lipid homeostasis. The purpose of this study was to measure FABP4 plasma levels, assess FABP4 allelic variants, and explore potential associations with fasting glucose and insulin levels in young school-age children with and without obesity.

Endothelial dysfunction in obese non-hypertensive children without evidence of sleep disordered breathing.

Background: Endothelial dysfunction is a complication of both obesity and obstructive sleep apnea syndrome (OSAS), the latter being highly prevalent among obese children. It is unknown whether obesity causes endothelial dysfunction in children in the absence of OSAS. This study examines endothelial function in obese and non-obese children without OSAS.

Dietary and physical activity patterns in children with obstructive sleep apnea.

Objective: To assess dietary and physical activity patterns and morning circulating blood levels of the orexigenic hormones ghrelin and visfatin in children with either obesity, obstructive sleep apnea (OSA), or both conditions.

Study Design: In this cross-sectional design, 5- to 9-year-old participants (n = 245) from the community were identified. After overnight polysomnography, caregivers filled out a food and physical activity questionnaire, and the child underwent a fasting blood draw for ghrelin and visfatin plasma levels.