Background
Adolescents with asthma have a higher risk of morbidity and mortality than other age groups. Asthma self-management has been shown to improve outcomes; however, the concept of asthma self-management is not explicitly defined.
Methods
We use the Norris method of concept clarification to delineate what constitutes the concept of asthma self-management in adolescents. Five databases were searched to identify components of the concept of adolescent asthma self-management, and lists of relevant subconcepts were compiled and categorized.
Results
Analysis revealed 4 specific domains of self-management behaviors: (1) symptom prevention; (2) symptom monitoring; (3) acute symptom management; and (4) communication with important others. These domains of self-management were mediated by intrapersonal/cognitive and interpersonal/contextual factors.
Conclusions
Based on the analysis, we offer a research-based operational definition for adolescent asthma self-management and a preliminary model that can serve as a conceptual base for further research.
doi:10.1089/ped.2012.0150
PMCID: PMC3522127
PMID: 23285426
Asthma disproportionally affects different ethnic/racial groups, with Puerto Ricans and African Americans suffering the highest asthma prevalence and morbidity, Mexicans the lowest, and non-Hispanic whites in between. Genome-wide association studies of asthma have found both shared and race/ethnic-specific genetic risks factors for asthma. However, the majority of genetic asthma research is performed in populations of European descent, which limits the benefits of genetic research to European populations. It is important to biomedical and clinical research to include more diverse and underrepresented populations. The rich genetic diversity of all populations can be leveraged to scientific advantage. For example, admixture mapping provides a more powerful approach than traditional genome-wide allelic association studies in discovering genetic associations for complex diseases. By being more inclusive we can achieve a better understanding of the genetics of asthma, address health disparities, and ensure that scientific advances will benefit populations worldwide.
doi:10.1089/ped.2012.0173
PMCID: PMC3429272
PMID: 22970422
Asthma and obesity, which have reached epidemic proportions, impact urban youth to a great extent. Findings are inconsistent regarding their relationship; no studies have considered asthma management. We explored the association of obesity and asthma-related morbidity, asthma-related health care utilization, and asthma management in urban adolescents with uncontrolled asthma. We classified 373 early adolescents (mean age=12.8 years; 82% Hispanic or Black) from New York City public middle schools into 4 weight categories: normal (body mass index [BMI]<85th percentile); overweight (85th percentile≤BMI<95th percentile); obese (95th percentile≤BMI<97th percentile); and very obese (BMI≥97th percentile). We compared sample obesity prevalence to national estimates, and tested whether weight categories predicted caregiver reported asthma outcomes, adjusting for age and race/ethnicity. Obesity prevalence was 37%, with 28% of the sample being very obese; both rates were significantly higher than national estimates. We found no significant differences in asthma-related health care utilization or asthma management between weight categories, and a few differences in asthma-related morbidity. Relative to normal weight and obese youth, overweight youth had higher odds of never having any days with asthma-related activity limitations. They also had higher odds of never having asthma-related school absences compared with obese youth. Overweight youth with asthma-related activity limitations had more days with limitations compared with normal weight youth. Overweight, but not obese youth, missed more school due to asthma than normal weight youth. Overweight and obesity prevalence was very high in urban, Hispanic, and Black adolescents with uncontrolled asthma, but not strongly associated with asthma-related morbidity, asthma-related health care utilization, or asthma management practices.
doi:10.1089/ped.2012.0145
PMCID: PMC3429276
PMID: 22970423
Obesity rates have increased dramatically among children in many parts of the world, especially in North America and several other English-speaking countries. The impact of obesity on pediatric health has become a major prevention initiative by the Obama administration and several public health organizations. Children with obesity are at increased risk for developing asthma, which is already one of the most common chronic diseases among children. The cause underlying obesity's impact on asthma risk is unknown. Commonly cited potential etiologies include airway smooth muscle dysfunction from thoracic restriction, obesity-related circulating inflammation priming the lung, and obesity-related comorbidities mediating asthma symptom development. Each of these theories does not fit precisely with all of the data that have accumulated over the last decade. In this review, I will explore other possible causes including: (1) dietary characteristics common in Westernized countries that might lead to both obesity and asthma; (2) reductions in physical activity; and (3) genetic alterations that increase the propensity to both obesity and asthma together. Next, I will review the current data on how obesity affects common characteristics of asthma such as airway inflammation, lung function, risk of exacerbation, atopy, and response to treatment. Obesity in children with asthma appears to be associated with greater airflow obstruction and a mildly diminished response to inhaled corticosteroids. Little objective evidence in children suggests that obesity significantly heightens the risk of exacerbation or worsens disease stability in children. Lastly, I will discuss the current literature that suggests that obese children with asthma generally should receive the same guidelines-based management as lean children. However, interventions that encourage daily physical activity, weight-loss, normalization of nutrient levels, and monitoring of common obesity-related sequelae should be considered by healthcare providers managing obese children with difficult-to-control asthma.
doi:10.1089/ped.2011.0137
PMCID: PMC3377949
PMID: 22768385
Butsch Kovacic, Melinda | Biagini Myers, Jocelyn M. | Lindsey, Mark | Patterson, Tia | Sauter, Sharon | Ericksen, Mark B. | Ryan, Patrick | Assa'ad, Amal | Lierl, Michelle | Fischer, Thomas | Kercsmar, Carolyn | McDowell, Karen | Lucky, Anne W. | Sheth, Anita P. | Hershey, Andrew D. | Ruddy, Richard M. | Rothenberg, Marc E. | Khurana Hershey, Gurjit K.
Background
Allergic disorders, including asthma, allergic rhinitis, atopic dermatitis, eosinophilic esophagitis, and food allergy, are a major global health burden. The study and management of allergic disorders is complicated by the considerable heterogeneity in both the presentation and natural history of these disorders. Biorepositories serve as an excellent source of data and biospecimens for delineating subphenotypes of allergic disorders, but such resources are lacking.
Methods
In order to define subphenotypes of allergic disease accurately, we established an infrastructure to link and efficiently utilize clinical and epidemiologic data with biospecimens into a single biorepository called the Greater Cincinnati Pediatric Clinic Repository (GCPCR). Children with allergic disorders as well as healthy controls are followed longitudinally at hospital clinic, emergency department, and inpatient visits. Subjects' asthma, allergy, and skin symptoms; past medical, family, social, diet, and environmental histories; physical activity; medication adherence; perceived quality of life; and demographics are ascertained. DNA is collected from all participants, and other biospecimens such as blood, hair, and nasal epithelial cells are collected on a subset.
Results
To date, the GCPCR has 6,317 predominantly Caucasian and African American participants, and 93% have banked DNA. This large sample size supports adequately powered genetic, epidemiologic, environmental, and health disparities studies of childhood allergic diseases.
Conclusions
The GCPCR is a unique biorepository that is continuously evaluated and refined to achieve and maintain rigorous clinical phenotype and biological data. Development of similar disease-specific repositories using common data elements is necessary to enable studies across multiple populations of comprehensively phenotyped patients.
doi:10.1089/ped.2011.0116
PMCID: PMC3377950
PMID: 22768387
Background
Fractional exhaled nitric oxide (FENO) levels are increased in children with asthma and in infants with recurrent wheezing, but the role of FENO in the acute phase of bronchiolitis is still not defined.
Objective
The aim of this study is to evaluate FENO values in the acute phase of bronchiolitis, compare them with healthy infants, and relate those values with the appearance of other wheezing episodes.
Methods
FENO values were determined in infants between 2 months and 2 years affected with RVS bronchiolitis by offline method. The FENO values collected in the acute phase were related with the respiratory clinical symptoms presented in the 2 years following the episode.
Results
A total of 30 patients were recruited: 15 in the bronchiolitis group and 15 in the control group. The average of the FENO values in the acute phase was 18.74 ppb (range 2–88) in the bronchiolitis group, and 8.75 ppb (range 2–24) in the control group. However, these results showed no significant statistical differences (p=0.176). Nevertheless, we found a positive correlation between the FENO values and the clinical score (Downes) of the bronchiolitis episode (p=0.023). In infants that presented other wheezing episodes in the 2 years after, the average of FENO in the acute phase of the first episode was 23.1 ppb (average of 10.25 ppb) versus 8.4 ppb (average 5.4 ppb) in the group of patients with no other episodes. The comparison of averages has no statistical significance.
Conclusion
We found no differences in FENO between infants with bronchiolitis and healthy ones. The FENO values in the acute phase seems to be related to the severity of the disease but do not predict the appearance of wheezing episodes in the following 2 years.
doi:10.1089/ped.2011.0127
PMCID: PMC3377953
PMID: 22768386
Objectives
This paper documents individual asthma action plan presence and quick relief medication (albuterol) availability for elementary students enrolled in five Alabama school systems.
Patients and Methods
Data were obtained during baseline data collection (fall 2005) of a school-based supervised asthma medication trial. All students attended 1 of 36 participating elementary schools across five school systems in Jefferson County, Alabama. In addition, they had to have physician-diagnosed asthma requiring daily controller medication. Each school system had its own superintendent and elected school board. Asthma action plan presence and albuterol availability was confirmed by study personnel. Asthma action plans had to contain daily and acute asthma management instructions. Predictors of asthma action plan presence and albuterol availability were also investigated. Associations between albuterol availability and self-reported characteristics including health care utilization prior to study enrollment and outcomes during the study baseline period were also investigated.
Results
Enrolled students had a mean (SD) age of 11.0 (2.1) years, 91% were African American, and 79% had moderate persistent asthma. No student had a complete asthma action plan on file and only 14% had albuterol physically available at school. Albuterol availability was not predicted by gender, race, insurance status, second-hand smoke exposure, need for pre-exercise albuterol, asthma severity, or self-reported health care utilization prior to study enrollment. Albuterol availability did not predict school absences, red/yellow peak flow recordings, or medication adherence during the study's baseline period.
Conclusion
Despite policies permitting students to possess albuterol, few elementary students across five independent school systems in Alabama actually had it readily available at school.
doi:10.1089/ped.2011.0118
PMCID: PMC3306583
PMID: 22454787
Background
According to National Institutes of Health (NIH) guidelines, asthma control and severity are unique constructs. Little is known about how asthma control and severity are distinguished by pediatricians and if they influence treatment recommendations.
Methods
We conducted a random-sample survey of 500 pediatricians using patient vignettes with different asthma status indicators (recent hospitalization, parental report of bother from asthma, frequent symptoms, parental report of worsening asthma, and wheeze during physical exam) and a visual analog scale (VAS) to rate control and severity. Regression models assessed the independent effects of these indicators on asthma control and severity ratings, and the effects of these ratings on treatment recommendations.
Results
A total of 270 respondents provided usable data. Compared to patients with well-controlled asthma: (1) medication intensity influenced only severity ratings; (2) frequent symptoms and recent hospitalization influenced control and severity ratings; (3) wheeze and bother influenced control ratings only (p<0.001 for all comparisons); (4) a report of worse asthma did not significantly affect any ratings (p>0.2). Poorer VAS control ratings were associated with recommendations to step-up treatment (odds ratio [OR] 2.61, 95% confidence interval [CI], 2.2–3.1, p<0.001), but more severe VAS ratings were not (OR 1.02, 95% CI, 0.9–1.2, p=0.8). Recommendations to step-down treatment were associated with poorer VAS control ratings (OR 0.70, 95% CI, 0.6–0.8, p<0.001) and more severe VAS ratings (OR 0.82, 95% CI, 0.7–0.9, p<0.001).
Conclusions
Pediatricians who step-up asthma treatment base their assessments on asthma control, while assessments of both control and severity factor into their decision to step-down asthma therapy.
doi:10.1089/ped.2011.0107
PMCID: PMC3306591
PMID: 22454788
Primary ciliary dyskinesia (PCD) is a rare genetic condition that causes impaired mucociliary clearance due to poorly functioning cilia. PCD is one disease manifestation of the many recently recognized associations with ciliary malfunction, referred to as “ciliopathies.” Manifestations of PCD commonly begin in the neonatal period with cough, pneumonia, and chronic ear infections or effusions. Approximately half of the affected individuals have situs inversus totalis. The diagnosis is often made in later childhood or early adulthood, because symptoms mimic more common childhood illnesses and because the definitive diagnosis of PCD can be challenging. Treatment recommendations are largely based on therapies used for other conditions with impaired mucociliary clearance in the absence of evidence-based research specific for PCD. Early recognition and initiation of both otolaryngologic and pulmonary management might reduce potential long-term morbidities. The purpose of this article is to update primary care providers, allergists, and pediatric pulmonologists on recent advances in this interesting condition.
doi:10.1089/ped.2011.0099
PMCID: PMC3255511
PMID: 22276227
Arjomandi, Mehrdad | Galanter, Josh M. | Choudhry, Shweta | Eng, Celeste | Hu, Donglei | Beckman, Kenneth | Chapela, Rocío | Rodríguez-Santana, José R. | Rodríguez-Cintrón, William | Ford, Jean | Avila, Pedro C. | Burchard, Esteban G.
Recent studies have shown that osteopontin, a cytokine with suggested immunoregulatory functions, may contribute to pathogenesis of asthma. To determine whether single-nucleotide polymorphisms (SNPs) in SPP1, the gene encoding osteopontin, are associated with risk of asthma, we genotyped 6 known SNPs in SPP1 in the well-characterized Genetics of Asthma in Latino Americans population of 294 Mexican and 365 Puerto Rican parent–child asthma trios. The associations between SNPs and asthma or asthma-related phenotypes were examined by transmission disequilibrium tests as implemented in the family-based association test program. Three polymorphisms, 1 in exon 7 (rs1126616C) and 2 in the 3′-untranslated region (rs1126772A and rs9138A) of SPP1, were associated with diagnosis of asthma, severity of asthma, asthma in subjects with elevated immunoglobulin E (IgE) (IgE >100 IU/mL), and postbronchodilator FEV1 in Puerto Ricans (P values=0.00007–0.04). The CC genotype of rs1126616 conferred an odds ratio of 1.7 (95% CI=[1.3, 2.3], P value adjusted for multiple comparisons=0.001) for asthma compared with the CT and TT genotypes. Furthermore, haplotype analysis identified rs1126616C-rs1126772A-rs9138A to be associated with an increased risk for asthma, severity of asthma, and asthma in subjects with elevated IgE (P=0.03). There was no association between the SPP1 SNPs and asthma outcomes in Mexicans. Our findings suggest that the SPP1 gene is a risk factor for asthma and asthma-related phenotypes in Puerto Ricans, and are consistent with previous animal and human studies on the role of osteopontin in pathogenesis of asthma.
doi:10.1089/ped.2011.0095
PMCID: PMC3255512
PMID: 22276228
doi:10.1089/ped.2011.0123
PMCID: PMC3281291
PMID: 22375279
Latino and African American children with asthma are at increased risk for asthma morbidity compared with non–Latino White children. Environmental control (ie, environmental exposures and family strategies to control them) may contribute to greater asthma morbidity for ethnic minority children living in urban environments. This study examined ethnic differences in a semi-structured assessment of environmental control, associations between environmental control and asthma outcomes (asthma control, functional limitation, and emergency department [ED] use), and ethnic differences in environmental triggers in a sample of urban Latino, African American, and non–Latino White families. One hundred thirty-three children (6–13 years of age) and their caregivers completed demographic questionnaires, measures of asthma control and morbidity, and a semi-structured interview assessing environmental control. Reported environmental control differed significantly by ethnicity (P<0.05), with Latino families reporting higher levels of environmental control. Reported environmental control was significantly associated with asthma control (P<0.017) and functional limitation (P<0.017). Reported environmental control and ED use were significantly associated in Latino families (P<0.05). Non–Latino White and African American families reported more secondhand smoke exposure than Latino families (P<0.001). Latino families reported more optimal home environmental control than other ethnic groups. Substantial ethnic differences in asthma triggers suggest that observed ethnic disparities in asthma may be due, at least in part, to differences in the home environment.
doi:10.1089/ped.2011.0081
PMCID: PMC3255502
PMID: 22276226
Among adults, anxiety related to asthma has been acknowledged to influence asthma self-management. However, it has not been addressed in pediatric samples and there have been no measures developed to assess asthma-related anxiety in youth or parents. The objective of this study was to develop and test the psychometric properties of novel instruments assessing asthma-related anxiety: the Youth Asthma-Related Anxiety Scale (YAAS) and Parent Asthma-Related Anxiety Scale (PAAS). Scale items were analyzed for content validity. We determined the factor structure using exploratory factor analysis and tested the scales' psychometric properties with 285 Hispanic and African American early adolescents with uncontrolled asthma (mean age=12.8) and their parents (n=230) who participated in a larger randomized control trial testing the efficacy of an asthma intervention; control group families (134 youth and 103 parents) provided follow-up data to assess temporal stability. Both the YAAS and PAAS contained 2 factors with Cronbach alpha coefficients ranging from 0.75 to 0.90. The 2 factors, anxiety about asthma severity and about disease-related restrictions, were highly correlated within each measure. The measures displayed content and construct validity and demonstrated moderate temporal stability over 2–3 months (range: 0.36–0.42). The YAAS and PAAS have adequate psychometric properties and can meaningfully contribute to the assessment of asthma-related anxiety in adolescents and their parents, filling a clinical need in this population.
doi:10.1089/ped.2011.0076
PMCID: PMC3255504
PMID: 22276225
The fraction of exhaled nitric oxide (FeNO), a measure of airway inflammation, is a potential noninvasive tool to guide asthma management in children. It remains unclear, however, if FeNO adds any information beyond clinical assessment of asthma control. We evaluated the associations of FeNO level with short acting beta agonist use and compared it with other clinical asthma assessments. We examined a prospective cohort study of 225 tobacco-smoke-exposed children aged 6–12 years with doctor-diagnosed asthma, including measures of FeNO, reported days of short acting beta agonist use, and unscheduled asthma visits. FeNO was analyzed in relation to current and future (3 months later) short acting beta agonist use. Mean FeNO at baseline, 6, and 12 months was 15.5, 15.7, and 16.8 ppb. In multivariable analyses, higher FeNO level was associated with increased short acting beta agonist use but only among children who were not on inhaled corticosteroids. Among those not on an inhaled steroid, there was a 12% increase in current and 15% increase in future days of short acting beta agonist use for every 10 ppb increase in FeNO level. FeNO levels remained associated with current short acting beta agonist use even after adjusting for unscheduled asthma visits. FeNO levels remained associated with future short acting beta agonist use even after adjusting for current short acting beta agonist use or unscheduled asthma visits. We conclude that FeNO levels are associated with short acting beta agonist use but only among children who are not on an inhaled corticosteroid.
doi:10.1089/ped.2010.0047
PMCID: PMC3255503
PMID: 22276224
Kumar, Rajesh | Story, Rachel E. | Pongracic, Jacqueline A. | Hong, Xiumei | Arguelles, Lester | Wang, Guoying | Kuptsova-Clarkson, Nataliya | Pearson, Colleen | Ortiz, Kathryn | Bonzagni, Anthony | Apollon, Stephanie | Fu, Lingling | Bauchner, Howard | Wang, Xiaobin
A number of studies have linked obesity with asthma in adults and children. Few longitudinal studies have evaluated the effect of maternal pre-pregnancy obesity on either asthma or early childhood respiratory morbidity, and these have not been in urban, nonwhite populations. We sought to determine whether pre-pregnancy obesity was associated with recurrent wheezing in an urban, nonwhite population. This study includes 1,191 children from the Boston Birth Cohort (1998–present) followed prospectively to a mean age of 3.0 ± 2.4 years with study visits aligned with the pediatric primary care schedule. Multivariate logistic regression was used to evaluate the associations of maternal pre-pregnancy obesity (body mass index ≥30) with recurrent wheezing (≥4 lifetime episodes). Secondary outcomes included log-transformed cord-blood immunoglobulin E (Phadia), and physician diagnoses of eczema and food allergy. Pre-pregnancy obesity was present in 20.7% of mothers. Of the 1,191 children, 60 (5%) developed recurrent wheezing. Children of obese mothers had an increased risk of recurrent wheezing (adjusted odds ratio, 95% confidence interval: 3.51, 1.68–7.32). These associations persisted even after adjustment for fetal growth status. In contrast, maternal obesity was not associated with eczema or food allergy, and was inversely associated with log cord-blood immunoglobulin E (β, 95% confidence interval: −0.34, −0.66 to −0.02). In this predominantly urban, multiracial/ethnic birth cohort, maternal pre-pregnancy obesity was associated with an increased risk of recurrent wheezing. This association was not explained by fetal growth or increased atopy. Maternal pre-pregnancy obesity is a prevalent risk factor for respiratory morbidity in this urban, nonwhite population.
doi:10.1089/ped.2010.0032
PMCID: PMC3281288
PMID: 22375278
Kumar, Rajesh | Caruso, Deanna M. | Arguelles, Lester | Kim, Jennifer S. | Schroeder, Angela | Rowland, Brooke | Meyer, Katie E. | Schwarz, Kristin E. | Birne, Jennafer S. | Ouyang, Fengxiu | Pongracic, Jacqueline A. | Wang, Xiaobin
The effect of food introduction timing on the development of food allergy remains controversial. We sought to examine whether the presence of childhood eczema changes the relationship between timing of food introduction and food allergy. The analysis includes 960 children recruited as part of a family-based food allergy cohort. Food allergy was determined by objective symptoms developing within 2 hours of ingestion, corroborated by skin prick testing/specific IgE. Physician diagnosis of eczema and timing of formula and solid food introduction were obtained by standardized interview. Cox Regression analysis provided hazard ratios for the development of food allergy for the same subgroups. Logistic regression models estimated the association of eczema and formula/food introduction with the risk of food allergy, individually and jointly. Of the 960 children, 411 (42.8%) were allergic to 1 or more foods and 391 (40.7%) had eczema. Children with eczema had a 8.4-fold higher risk of food allergy (OR, 95% CI: 8.4, 5.9–12.1). Among all children, later (>6 months) formula and rice/wheat cereal introduction lowered the risk of food allergy. In joint analysis, children without eczema who had later formula (OR, 95% CI: 0.5, 0.3–0.9) and later (>1 year) solid food (OR, 95% CI: 0.5, 0.3–0.95) introduction had a lower risk of food allergy. Among children with eczema, timing of food or formula introduction did not modify the risk of developing food allergy. Later food introduction was protective for food allergy in children without eczema but did not alter the risk of developing food allergy in children with eczema.
doi:10.1089/ped.2010.0014
PMCID: PMC3281290
PMID: 22375277
Tobacco use currently claims >5 million deaths per year worldwide and this number is projected to increase dramatically by 2030. The burden of death and disease is shifting to low- and middle-income countries. Tobacco control initiatives face numerous challenges including not being a high priority in many countries, government dependence upon immediate revenue from tobacco sales and production, and opposition of the tobacco industry. Tobacco leads to environmental harms, exploitation of workers in tobacco farming, and increased poverty. Children are especially vulnerable. Not only do they initiate tobacco use themselves, but also they are victimized by exposure to highly toxic secondhand smoke. Awareness of tobacco adverse health effects is often superficial even among health professionals. The tobacco industry continues to aggressively promote its products and recognizes that children are its future. The tools and knowledge exist, however, to dramatically reduce the global burden of tobacco. In 2003 the World Health Organization adopted the Framework Convention on Tobacco Control. Aggressive tobacco control initiatives have been undertaken not only in high-income countries but also in less-wealthy countries such as Uruguay and Thailand. Stakeholders must come together in coordinated efforts and there must be a broad and sustained investment in global tobacco control.
doi:10.1089/ped.2010.0012
PMCID: PMC3281283
PMID: 22375275
Asthma remains the most common chronic condition of childhood. Strong evidence has linked exposure to allergens and other triggers commonly found in homes to allergen sensitization and asthma incidence and morbidity. A growing body of evidence has demonstrated that a home visit strategy that includes an environmental component that addresses multiple triggers through multiple interventions is effective. Such home visits reduce exposure to triggers, decrease symptoms and urgent health-care use, and increase quality of life. To make home visits widely available will require health-care payor reimbursement, government and health plan funding, training and certification of home visitors, and active referrals from health-care providers. However, a strategy based solely on education and behavior change is limited, because it cannot adequately reduce exposures due to adverse housing conditions. Therefore, approaches that address substandard housing are needed. These include remediation of existing housing and construction of new asthma-friendly homes. Most studies of remediation have made relatively narrow and focused improvements, such as insulation, heating, or ventilation. Outcomes have been mixed. Studies of new asthma-friendly homes are in their infancy, with promising pilot data. Further investigation is needed to establish the effectiveness of improving housing. A final strategy is improving housing quality through policy change, such as implementation of healthy housing guidelines for new construction, enhancement and increased enforcement of housing codes, and assuring smoke-free multi-unit homes. The combination of home visits, improved housing construction, and policy change has great potential for reducing the global burden of asthma.
doi:10.1089/ped.2010.0022
PMCID: PMC3281289
PMID: 22375276
Specific genetic causes for children's interstitial lung disease (chILD) have been identified within the past decade. These include deletions of or mutations in genes encoding proteins important in surfactant production and function (SP-B, SP-C, and ABCA3), surfactant catabolism (GM-CSF receptor), as well as transcription factors important for surfactant production (TTF1) or lung development (Fox F1), with heterozygous deletions or loss-of-function mutations of the latter resulting in alveolar capillary dysplasia (ACD) with misalignment of the pulmonary veins. Familial pulmonary fibrosis in adults may result from mutations in genes encoding components of telomerase and SP-A2. While not yet reported in children, the expression of these genes in alveolar type II epithelial cells supports a key role for the disruption of normal homeostasis in this cell type in the pathogenesis of interstitial lung disease. The identification of specific genetic causes for chILD now allows for the possibility of non-invasive diagnosis, and provides insight into basic cellular mechanisms that may allow the development of novel therapies.
doi:10.1089/ped.2009.0024
PMCID: PMC3207222
PMID: 22087432
Interstitial lung diseases (ILDs) occur across the lifespan, from birth to advanced age. However, the causes, clinical manifestations, histopathology, and management of ILD differ greatly among infants, older children, and adults. The historical approach of classifying childhood ILD (chILD) using adult classification schemes may therefore have done more harm than good. Nevertheless, identification of novel forms of chILD in the past decade, such as surfactant metabolism dysfunction disorders and neuroendocrine cell hyperplasia of infancy (NEHI), as well as genomic analysis of adult ILDs, has taught us that identical genotypes may result in distinct phenotypes at different ages and developmental stages, and that lung developmental pathways and cellular phenotypes are often recapitulated in adult ILDs. Thus comparison of the pathophysiology of ILD in children and adults in the context of lung development is useful in understanding the pathogenesis of these disorders, and may lead to novel therapeutic interventions for ILDs at all ages.
doi:10.1089/ped.2010.0004
PMCID: PMC3207223
PMID: 22087431
doi:10.1089/ped.2010.2301
PMCID: PMC3269219
PMID: 22332026
Though interstitial lung disease (ILD) can occur at any age in children, disorders more common in infancy and young children have received increased attention as an important group that is disproportionally affected, linked to lung development and lung injury, and represents disorders not seen in adult ILD. Identifying those children with potential children's ILD (chILD) and establishing a specific chILD diagnosis has evolved and is critical for pediatric pulmonologists, neonatologists, radiologists, and pathologists to recognize. Specific disorders more common in infancy include diffuse developmental disorders, growth abnormalities, pulmonary interstitial glycogenosis, neuroendocrine cell hyperplasia of infancy, and surfactant mutation dysfunction mutations. The presentation, evaluation, treatment, and clinical course are discussed for each of these specific disorders and other categories less common in infants and young children are briefly mentioned. Resources for physicians and families are also reviewed.
doi:10.1089/ped.2010.0011
PMCID: PMC3269220
PMID: 22332029
The spectrum of childhood interstitial lung diseases (chILD) encompasses a group of heterogeneous, rare disorders in children characterized by diffuse pulmonary infiltrates and disordered gas exchange. Whereas the disorders that present in early life are unique to children, those that present in older children are also seen in adults. This review will concentrate on chILD presenting in children older than 2 years of age with a focus on the idiopathic interstitial pneumonias, connective tissue diseases, alveolar hemorrhage, and hypersensitivity pneumonitis. A systematic approach to diagnosis that includes a careful history and physical, computed tomography of the chest, bronchoalveolar lavage, and lung biopsy can be very helpful in establishing the correct diagnosis. Treatment approaches are described, including general supportive measures, indications for a trial of systemic corticosteroids, or other immunomodulating therapies, and when lung transplantation reserved for those with end-stage lung disease should be considered.
doi:10.1089/ped.2010.0008
PMCID: PMC3269221
PMID: 22332030
The Children's Interstitial Lung Disease (chILD) Foundation and chILD Research Cooperative identified a need for accurate and understandable chILD-related information for families. As a result, collaboration with the University of Alabama at Birmingham (UAB) Pediatric Pulmonary Center (PPC) produced “Get Up And Go With chILD!,” a comprehensive, chILD-specific family education resource. Families and clinicians from multiple backgrounds and perspectives submitted content suggestions and copies of currently used family education and health management materials. Families provided information about the helpful and unhelpful information they had received in the past, the information they wished they had received, and their educational preferences. The resultant booklet is comprehensive, containing the education topics identified as critical for inclusion by families and clinicians, and is written at a seventh grade reading level. Available both in print and online, the online version contains live links to interactive Web sites, support groups, teaching videos, and downloadable forms and tools. If health education is to be understandable, useable, efficient, cost-effective, and of superior quality, if it is to improve people's lives by facilitating a change in their attitudes, beliefs, knowledge, skill levels, and behavior, an interdisciplinary, family-centered approach is crucial. This is resource intensive, but the initial costs of producing materials in this manner far outweigh the potential costs of poorly developed and delivered health education. Through an iterative, well-coordinated, collaborative process between families and clinicians from a variety of backgrounds and perspectives, “Get Up And Go With chILD!” exemplified this approach.
doi:10.1089/ped.2010.0005
PMCID: PMC3269222
PMID: 22332033
doi:10.1089/ped.2010.2302
PMCID: PMC3269223
PMID: 22332027