Transition to adult care: systematic assessment of adolescents with chronic illnesses and their medical teams.

OBJECTIVE: To examine the process of transition from pediatric to adult health care services from the perspectives of young adults with chronic disease and both pediatric and adult health care providers. STUDY DESIGN: A qualitative approach using focus-group interviews was performed to investigate transition experiences. Novel games were also used to generate data. Content and narrative analyses of interview transcripts were performed. RESULTS: We conducted 6 focus groups with 10 young adults who had chronic disease and with 24 health care providers. Content analysis yielded 3 content domains: (1) transition experiences in the context of relationships among patients, parents, and health care providers; (2) differences between pediatric and adult-oriented medicine and how these differences inhibit or facilitate transition; and (3) identification of transition services that should be provided to young patients who have chronic disease. CONCLUSION: This study demonstrates the need for gradual transfer of disease management from parent to child and the need for better communication between adult and pediatric services during the transition process. Pediatric medicine and adult medicine represent different subcultures; acknowledging these differences may improve cooperation during transition from pediatric to adult providers. Young-adult patients with chronic disease embrace the use of technology for specific interventions to improve the transition experience.

When disclosing a serious diagnosis to a minor conflicts with family values.

An 11-year old Asian-Indian boy was recently discovered to have acute myelogenous leukemia. The pediatric hematologist-oncologist arranged a meeting to inform the parents about the diagnosis, prognosis and treatment. The physician planned to include the child in this process. However, the child's father, a computer programmer, made a request that his son should not be informed about the diagnosis of leukemia. The father asked that his son should be told that he has a severe infection and will require intensive treatment. The oncologist then informed the father that, as a physician, she has the responsibility to truthfully disclose the diagnosis to a patient, and she insisted on informing the child about the leukemia in an open and truthful manner.

Repeated aerosolized AAV-CFTR for treatment of cystic fibrosis: a randomized placebo-controlled phase 2B trial.

Previous studies have demonstrated that delivery of a recombinant adeno-associated virus (AAV) vector encoding the complete human cystic fibrosis transmembrane regulator (CFTR) cDNA (tgAAVCF) to the nose, sinus, and lungs of subjects with cystic fibrosis (CF) was safe and well tolerated. In a small randomized, double-blind study of three doses of aerosolized tgAAVCF or placebo at 30-day intervals, encouraging but non-significant trends in pulmonary function and induced sputum interleukin 8 (IL-8) levels were seen at early time points. This larger study was conducted to verify these trends. One hundred and two subjects aged 12 years and older with mild-to-moderate cystic fibrosis (forced expiratory flow in 1 sec [FEV1]:60% predicted) were randomized to two aerosolized doses of 1x10(13)DNase-resistant particles of tgAAVCF (n=51) or matching placebo (n=51) administered 30 days apart. Although tgAAVCF was well tolerated, the study did not meet its primary efficacy end point of statistically significant improvement in FEV1 30 days after initial administration of tgAAVCF compared with placebo. There were no significant differences in spirometric lung function over time, induced sputum biologic markers, or days of antibiotic use in either treatment group. Thus repeated doses of aerosolized tgAAVCF were safe and well tolerated, but did not result in significant improvement in lung function over time. Because gene transfer is the simplest, most basic way to correct the underlying genetic defect that leads to disease in CF, further research is warranted to develop an effective gene transfer agent for the treatment of CF.

Interactive Palliative and End-of-Life Care Modules for Pediatric Residents.

Background. There is a need for increased palliative care training during pediatric residency. Objective. In this pilot study, we created a comprehensive experiential model to teach palliative care skills to pediatric residents. Our Comfort Care Modules (CCMs) address pediatric palliative care (PPC) topics of breaking bad news, dyspnea, anxiety, pain management, and the dying child. We also evaluated a scoring system and gathered qualitative data. Methods. The CCMs are part of the University of California San Diego pediatric residency's second-year curriculum. Comparisons were made for statistical trends between residents exposed to the modules (n = 15) and those not exposed (n = 4). Results. Nineteen of 36 residents (52%) completed surveys to self-rate their preparedness, knowledge, and confidence about PPC before and after the intervention. Resident scores increased in all areas. All improvements reached statistical significance except confidence when breaking bad news. Overall, the resident feedback about the CCMs was positive. Conclusions. This study demonstrates that the CCMs can be performed effectively in an academic setting and can benefit residents' self-perception of preparedness, confidence, and knowledge about pediatric palliative care. In the future, we plan to implement the modules on a larger scale. We encourage their use in interprofessional settings and across institutions.

Preparing adolescents with chronic disease for transition to adult care: a technology program.

BACKGROUND: Adolescents with chronic disease (ACD) must develop independent disease self-management and learn to communicate effectively with their health care team to transition from pediatric to adult-oriented health care systems. Disease-specific interventions have been implemented to aid specific ACD groups through transition. A generic approach might be effective and cost-saving. METHODS: Eighty-one ACD, aged 12 to 20 years, were recruited for a randomized clinical trial evaluating an 8-month transition intervention (MD2Me). MD2Me recipients received a 2-month intensive Web-based and text-delivered disease management and skill-based intervention followed by a 6-month review period. MD2Me recipients also had access to a texting algorithm for disease assessment and health care team contact. The intervention was applicable to adolescents with diverse chronic illnesses. Controls received mailed materials on general health topics. Disease management, health-related self-efficacy, and health assessments were performed at baseline and at 2 and 8 months. Frequency of patient-initiated communications was recorded over the study period. Outcomes were analyzed according to assigned treatment group over time. RESULTS: MD2Me recipients demonstrated significant improvements in performance of disease management tasks, health-related self-efficacy, and patient-initiated communications compared with controls. CONCLUSIONS: Outcomes in ACD improved significantly among recipients of a generic, technology-based intervention. Technology can deliver transition interventions to adolescents with diverse chronic illnesses, and a generic approach offers a cost-effective means of positively influencing transition outcomes. Further research is needed to determine whether improved short-term outcomes translate into an improved transition for ACD.

Novel CFTR variants identified during the first 3 years of cystic fibrosis newborn screening in California.

California uses a unique method to screen newborns for cystic fibrosis (CF) that includes gene scanning and DNA sequencing after only one California-40 cystic fibrosis transmembrane conductance regulator (CFTR) panel mutation has been identified in hypertrypsinogenemic specimens. Newborns found by sequencing to have one or more additional mutations or variants (including novel variants) in the CFTR gene are systematically followed, allowing for prospective assessment of the pathogenic potential of these variants. During the first 3 years of screening, 55 novel variants were identified. Six of these novel variants were discovered in five screen-negative participants and three were identified in multiple unrelated participants. Ten novel variants (c.2554_2555insT, p.F1107L, c.-152G>C, p.L323P, p.L32M, c.2883_2886dupGTCA, c.2349_2350insT, p.K114del, c.-602A>T, and c.2822delT) were associated with a CF phenotype (42% of participants were diagnosed at 4 to 25 months of age), whereas 26 were associated with CFTR-related metabolic syndrome to date. Associations with the remaining novel variants were confounded by the presence of other diseases or other mutations in cis or by inadequate follow-up. These findings have implications for how CF newborn screening and follow-up is conducted and will help guide which genotypes should, and which should not, be considered screen positive for CF in California and elsewhere.

The utility of a portable recording device for screening of obstructive sleep apnea in obese adolescents.

STUDY OBJECTIVES: The ApneaLink Plus is a portable recording device that measures air flow, respiratory effort, heart rate, and pulse oximetry. In the current study, we asked whether this device could be used to screen for obstructive sleep apnea in the pediatric population. METHODS: Sleep-laboratory polysomnography (PSG) was performed simultaneously with measurements using the portable device on obese pediatric patients referred for snoring. The obstructive apnea hypopnea index (OAHI) was calculated automatically by the device (autoscore) and manually by the investigators. Sensitivity, specificity, correlation, and receiver operating curves (ROC) were used to compare the portable device to PSG. RESULTS: Twenty-five subjects (60% male, mean age 13.6 ± 3.0 years, OAHI on PSG 11.8 ± 27.1) were studied. We identified a significant correlation between the OAHI of the ApneaLink autoscore and PSG (Spearman Rho = 0.886 [p < 0.001]). Using the PSG results as standard, ROC curves comparing the ApneaLink OAHI with the PSG OAHI demonstrated high congruence. The autoscore agreement was very good at PSG OAHI > 1.5 (area under the receiver operating curve [AUC] 0.965, OAHI > 5 [AUC 0.937], and OAHI > 10 [AUC 1.00]). The agreement of the manual score and autoscore were essentially equivalent. The device's autoscore demonstrated high sensitivity at all cutoffs examined (100% at OAHI > 1.5, 85.7% at OAHI > 5, and 100% at OAHI > 10). The specificity increased with increasing cutoffs (46.2% at OAHI > 1.5, 83.3% at OAHI > 5, and 90.0% at OAHI > 10). CONCLUSION: he ApneaLink Plus is a sensitive screening tool for evaluation of suspected OSAS in obese pediatric patients aged 9-18 years. The specificity improves with increasing OAHI cutoffs. The device detects OSAS when tested in a sleep laboratory on obese adolescents referred for symptoms of sleep related breathing disorder.

When disclosing a serious diagnosis to a minor conflicts with family values.

CASE: An 11-year old Asian-Indian boy was recently discovered to have acute myelogenous leukemia. The pediatric hematologist-oncologist arranged a meeting to inform the parents about the diagnosis, prognosis and treatment. The physician planned to include the child in this process. However, the child's father, a computer programmer, made a request that his son should not be informed about the diagnosis of leukemia. The father asked that his son should be told that he has a severe infection and will require intensive treatment. The oncologist then informed the father that, as a physician, she has the responsibility to truthfully disclose the diagnosis to a patient, and she insisted on informing the child about the leukemia in an open and truthful manner.