Psychologist's Unique Role in Improving Quality of Life of Children with Chronic Lung Diseases and Their Families.

Pediatric chronic lung diseases burden their patients and families with heavy treatment loads, frequent extensive clinic visits to multiple providers, frequent emergency department visits and hospitalizations, and contribute to significant psychosocial issues with caregiver's burnout. The purpose of this chapter is to outline the psychosocial impact of the major pediatric chronic lung diseases and the unique role of the psychologist in relieving this burden. These include severe asthma, cystic fibrosis, bronchopulmonary dysplasia, and dependence on home mechanical ventilation.

Severe paediatric obesity and sleep: A mutual interactive relationship!

Childhood severe obesity is a serious, urgent and complex global health problem with long-term co-morbidities. Obstructive sleep-disordered breathing is more common in obese children and adolescents. Increased body mass index is associated with an increase in apnea-hypopnea index. Obstructive sleep apnea leads to a decrease in rapid eye movement sleep, and obese children have been noted to have a decrease in rapid eye movement sleep, leading to weight gain. Short sleep duration and poor sleep quality are associated with childhood obesity and cardiometabolic risks. Public health strategies for obesity prevention should focus more on sleep. Targeting childhood obesity is important in the prevention and management of obstructive sleep-disordered breathing.

Etiologies of apnea of infancy.

BACKGROUND: To date there are limited data in the literature to guide the initial evaluation for etiologies of apnea in full-term infants born at greater than or equal to 37 weeks conceptional age (apnea of infancy [AOI]). Pediatricians and pediatric pulmonologists are left to pursue a broad, rather than targeted and a stepwise approach to begin diagnostic evaluation. METHODS: We performed a retrospective chart review of 101 symptomatic full-term infants (age under 12 months) diagnosed with apnea with an inpatient multichannel pneumogram (six channels) or a fully attended overnight pediatric polysomnogram in our outpatient sleep center accredited by American Academy of Sleep Medicine (AASM), scored using the standards set forth by the AASM. The infant was diagnosed as having AOI if the apnea hypopnea index (AHI) was greater than 1 (AHI is defined as the number of apnea and hypopnea events per hour of sleep). The final diagnosis/etiology was determined based on physician clinical assessment and work up. We then determined the frequency for each diagnosis. RESULTS: We found that the three most common etiologies were gastroesophageal reflux disease (GERD) (48/101), upper airway abnormalities/obstruction (37/101), and neurological diseases (19/101). There were significant numbers of infants with multiple etiologies for AOI. CONCLUSION: Based on the frequencies obtained, pediatric practitioners caring for full-term infants with apnea of unknown etiology are advised to begin with evaluation of more likely causes such as GERD and upper airway abnormalities/obstruction before evaluating for less common causes.

Update in Pediatric Asthma: Selected Issues.

Asthma is a complex condition that affects 14% of the world's children and the approach to management includes both pharmacologic as well as non-pharmacologic strategies including attention to complex socioeconomic status phenomena. After an historical consideration of asthma, allergic and immunologic aspects of asthma in children and adolescents are presented. Concepts of socioeconomic aspects of asthma are considered along with environmental features and complications of asthma disparities. Also reviewed are links of asthma with mental health disorders, sleep disturbances and other comorbidities. A stepwise approach to asthma management is discussed that includes pharmacologic and non-pharmacologic strategies in the pediatric population. The role of immunotherapy and use of various immunomodulators are considered as well.

Expanding the phenotype of mutations in DICER1: mosaic missense mutations in the RNase IIIb domain of DICER1 cause GLOW syndrome.

BACKGROUND: Constitutional DICER1 mutations have been associated with pleuropulmonary blastoma, cystic nephroma, Sertoli-Leydig tumours and multinodular goitres, while somatic DICER1 mutations have been reported in additional tumour types. Here we report a novel syndrome termed GLOW, an acronym for its core phenotypic findings, which include Global developmental delay, Lung cysts, Overgrowth and Wilms tumour caused by mutations in the RNase IIIb domain of DICER1. METHODS AND RESULTS: We performed whole exome sequencing on peripheral mononuclear blood cells of an affected proband and identified a de novo missense mutation in the RNase IIIb domain of DICER1. We confirmed an additional de novo missense mutation in the same domain of an unrelated case by Sanger sequencing. These missense mutations in the RNase IIIb domain of DICER1 are suspected to affect one of four metal binding sites located within this domain. Pyrosequencing was used to determine the relative abundance of mutant alleles in various tissue types. The relative mutation abundance is highest in Wilms tumour and unaffected kidney samples when compared with blood, confirming that the mutation is mosaic. Finally, we performed bioinformatic analysis of microRNAs expressed in murine cells carrying specific Dicer1 RNase IIIb domain metal binding site-associated mutations. We have identified a subset of 3p microRNAs that are overexpressed whose target genes are over-represented in mTOR, MAPK and TGF-ß signalling pathways. CONCLUSIONS: We propose that mutations affecting the metal binding sites of the DICER1 RNase IIIb domain alter the balance of 3p and 5p microRNAs leading to deregulation of these growth signalling pathways, causing a novel human overgrowth syndrome.

Desquamative interstitial pneumonia in a child related to cigarette smoke.

An 8-year-old white male was referred to our clinic for a 1-year history of decreased appetite and no weight gain. His entire workup failed to demonstrate cystic fibrosis, or any infectious or immune-related diseases. Chest imaging and clinical picture suggested parenchymal lung disease. Histopathology examination of the video-assisted thoracoscopic biopsy of his lungs showed a desquamative interstitial pneumonia (DIP)-like pattern that resembled that of adult smokers with the same disease. Genes for surfactant proteins B and C and the transporter ABCA3 were all negative. Furthermore, lack of any genetic disorder for surfactant proteins, along with his history of heavy exposure to 10 pack-years of indoor secondhand smoke suggests that this child's DIP is due to secondhand cigarette exposure. He had nearly complete resolution of his symptoms after a year of treatments with pulse steroid and hydroxycholoroquine. To the best of our knowledge this is the first case of cigarette smoke-related DIP reported in a child.

Physical activity, growth, and inflammatory mediators in BMI-matched female adolescents.

PURPOSE: Physical inactivity is deleterious to health, but it has been difficult to determine the extent to which these effects are attributable to abnormal body composition or to factors related to physical activity alone. To begin to gauge independent effects of physical activity on health risk, we matched by BMI two groups of normal-weight adolescent females, one physically active (all participants in high school sports), and one sedentary. METHODS: Thirty-seven sedentary and 37 physically active adolescent females (mean 15.5 yr) were matched for age and BMI percentile (mean = 58.8). Comparisons included fitness, body composition and bone mineralization (by DEXA), circulating inflammatory cytokines, growth factors, bone-turnover markers, leptin, and adiponectin. RESULTS: Compared with the normal-weight sedentary girls, active girls had significantly (P < 0.05) higher fitness level (peak VO2 35.5 +/- 5.2 vs 24.4 +/- 4.1 mL.kg(-1).min(-1)), lean body mass (43.2 +/- 4.4 vs 38.7 +/- 3.6 kg), bone mineralization (spinal BMD z-scores 0.04 +/- 0.88 vs -0.41 +/- 0.85), and lower percent body fat (25.4 +/- 04.6 vs 29.7 +/- 03.7%). Additionally, active girls had lower inflammatory cytokines levels (e.g., TNF-alpha 1.7 +/- 1.3 vs 2.6 +/- 2.2 pg.mL(-1)), and leptin (17.4 +/- 11.2 vs 24.7 +/- 14.7 ng.mL(-1)), and higher bone-turnover markers (e.g. osteocalcin 12.6 +/- 7.6 vs 7.8 +/- 3.0 U.L(-1)), IGFBP-3 (6416 +/- 21280 vs 4247 +/- 1082 ng.mL(-1)), and adiponectin levels (11919 +/- 3935 vs 9305 +/- 2843 ng.mL(-1)). CONCLUSION: The normal-weight, physically active group was fitter and had greater lean body mass, stronger bones, and lower levels of inflammatory markers than did the normal-weight, sedentary group. In adolescent girls, the choice of a lifestyle involving high school sports is characterized by a circulating mediator and body composition pattern that, if sustained, is associated with generally lower long-term risk of cardiovascular disease and osteoporosis.

Air pollution and type 1 diabetes in children.

BACKGROUND: Over the past decade, there has been a worldwide largely unexplained increase in the incidence of type 1 diabetes in young children. This study explores the quantitative role of exposure to specific air pollutants in the development of type 1 diabetes in children. METHODS: A total of 402 children were retrospectively studied. Zip code-related, time-specific birth-to-diagnosis exposure to five ambient air pollutants was obtained for 102 children with type 1 diabetes and 300 healthy children receiving care at a single hospital. Pollution exposure levels were created by summing up zip code-specific pollution data and dividing by months of exposure from birth to diagnosis. Analysis employed chi2, two-tailed independent sample t-test and unconditional logistic regression. RESULTS: Odds ratio (OR) was significantly high for cumulative exposure to ambient ozone (O3) and sulfate (SO4) in cases compared with controls, OR = 2.89 [95% confidence interval (CI) = 1.80-4.62] and OR = 1.65 (CI = 1.20-2.28), respectively, even after adjustment for several potential confounders. Passive smoking was more frequent in children with diabetes (30 vs. 10%, p = 0.001). Attending day care and breast feeding in infancy were less frequent in children with diabetes (14 vs. 23%, p = 0.025; 59 vs. 78%, p = 0.001). Family history of diabetes, autoimmune disease and drug abuse was more frequent in cases (p < 0.01). CONCLUSION: Cumulative exposure to ozone and sulfate in ambient air may predispose to the development of type 1 diabetes in children. Early infant formula feeding and passive smoking in the household may precipitate or accelerate the onset of type 1 diabetes.