For pediatric rare diseases, the number of patients available to support traditional research methods is often inadequate. However, patients who have similar diseases cluster "virtually" online via social media. This study aimed to (1) determine whether patients who have the rare diseases Fontan-associated protein losing enteropathy (PLE) and plastic bronchitis (PB) would participate in online research, and (2) explore response patterns to examine social media' s role in participation compared with other referral modalities. A novel, internetbased survey querying details of potential pathogenesis, course, and treatment of PLE and PB was created. The study was available online via web and Facebook portals for 1 year. Apart from 2 study-initiated posts on patient-run Facebook pages at the study initiation, all recruitment was driven by study respondents only. Response patterns and referral sources were tracked. A total of 671 respondents with a Fontan palliation completed a valid survey, including 76 who had PLE and 46 who had PB. Responses over time demonstrated periodic, marked increases as new online populations of Fontan patients were reached. Of the responses, 574 (86%) were from the United States and 97 (14%) were international. The leading referral sources were Facebook, internet forums, and traditional websites. Overall, social media outlets referred 84% of all responses, making it the dominant modality for recruiting the largest reported contemporary cohort of Fontan patients and patients who have PLE and PB. The methodology and response patterns from this study can be used to design research applications for other rare diseases. Pediatrics 2014;133:e1345-e1353 AUTHORS:

Objective To investigate the association of fetal growth and cerebrovascular resistance at different periods in gestation with neurodevelopment (ND) at 14 months in the univentricular subject. Methods We reviewed serial prenatal ultrasound (US) examinations from 133 infants enrolled in the Pediatric

Background Children with congenital heart disease are at risk for impaired neurodevelopment (ND). We investigated the association of fetal cerebrovascular resistance with ND in patients with single ventricle lesions. Methods In the Single Ventricle Reconstruction (SVR) and Infant Single Ventricle trials, 14-month ND was assessed using the Bayley Scales of Infant Development II. We investigated associations between ND scores and fetal middle cerebral artery pulsatility index (MCA-PI) z-scores, a Doppler-derived estimate of cerebrovascular resistance in a subset of those infants. Results Neurodevelopment assessments were performed at age 14.3 ± 1 months in 170 (74%) of 230 Infant Single Ventricle and 321 (58%) of 555 SVR subjects. Fetal echocardiographic data were available in 119 subjects, 72 (61%) of which had ND testing. Mean Psychomotor Development Index (PDI) (76 ± 20) and Mental Development Index (MDI) (89 ± 17) scores were lower than normative means (100 ± 15, P < .001). Mean MCA-PI z-score was −0.95 ± 1.52. Middle cerebral artery pulsatility index z-score correlated negatively with PDI (r = −0.27, P = .02) but was not associated with MDI. When MCA-PI z-score was added to a multivariable model controlling for factors identified in the SVR trial to predict PDI, the percentage of explained variation increased from 23% to 30%, and MCA-PI z-score remained an independent predictor (r = −3.864, P = .03). Middle cerebral artery pulsatility index z-score was not an independent predictor in a model adjusting for site. Conclusions Among fetuses with single ventricle anomalies, lower cerebrovascular resistance was associated with higher ND scores. This relationship is opposite to that observed with advanced intrauterine growth retardation and may represent a unique ability of these congenital heart disease fetuses to compensate for diminished cerebral oxygen delivery.

Background Chylothorax following congenital heart surgery is a common complication with associated morbidities, but consensus treatment guidelines are lacking. Variability exists in the duration of medical treatment and timing for surgical intervention. Methods Following institution of a clinical practice guideline for management of post-operative chylothorax at a single center, pediatric cardiothoracic intensive care unit (ICU) in June 2010, we retrospectively analyzed two cohorts of patients: those with chylothorax from 1/2008-5/2010 (early cohort; n = 118) and from 6/2010-8/2011 (late cohort; n = 45). Data collected included demographics, cardiac surgical procedure, treatments for chylothorax, bloodstream infections, hospital mortality, length of hospitalization, duration of mechanical ventilation, and device utilization. Results There were no demographic differences between the cohorts. No differences were found in octreotide use or surgical treatments for chylothorax. Significant differences were found in median times to chylothorax diagnosis (9 in early cohort versus 6 days in late cohort, p = 0.004), ICU length of stay (18 vs. 9 days, p = 0.01), hospital length of stay (30 vs. 23 days, p = 0.005), and total durations of mechanical ventilation (11 vs. 5 days, p = 0.02), chest tube use (20 vs. 14 days, p = 0.01), central venous line use (27 vs. 15 days, p = 0.001), and NPO status (9.5 vs. 6 days, p = 0.04). Conclusions Institution of a clinical practice guideline for treatment of chylothorax following congenital heart surgery was associated with earlier diagnosis, reduced hospital length of stay, mechanical ventilation, and device utilization for these patients.

Objective Characterize the medical history, disease progression, and treatment of current-era patients with the rare diseases Fontan-associated protein losing enteropathy (PLE) and plastic bronchitis (PB). Study Design A novel survey that queried demographics, medical details, and treatment information was piloted and placed online via a Facebook portal allowing social media to power the study. Participation regardless of PLE or PB diagnosis was allowed. Case control analyses compared patients with PLE and PB to uncomplicated control Fontan patients. Results The survey was completed by 671 subjects including 76 with PLE, 46 with PB, and 7 with both. Median PLE diagnosis was 2.5 years post-Fontan. Hospitalization for PLE occurred in 71% with 41% hospitalized ≥ 3 times. Therapy varied significantly. PLE patients more commonly had hypoplastic left ventricle (62% vs 44% control; OR 2.8, 95% CI 1.4–5.5), chylothorax (66% vs 41%; OR 3.0, CI 1.6–5.3), and cardiothoracic surgery in addition to staged palliation (17% vs 5%; OR 4.3, CI 1.6, 11.2). Median PB diagnosis was 2 years post-Fontan. Hospitalization for PB occurred in 91% with 61% hospitalized ≥3 times. Therapy was very diverse. PB patients more commonly had chylothorax at any surgery (72% vs 51%; OR 2.5, CI 1.2–5.1) and seasonal allergies (52% vs 36%; OR 2.0, CI 1.0–3.9). Conclusions Patient-specific factors are associated with diagnoses of PLE or PB. Treatment strategies are diverse without clear patterns. These results provide a foundation upon which to design future therapeutic studies and identify a clear need for forming consensus approaches to treatment.