Sweeney, Brooke

ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and patient‐led organizations developed an updated diagnostic algorithm. This algorithm provides practical, updated guidance for clinicians, including a pathway for accurately incorporating genetic findings into the diagnostic process. We recommend that a clinical diagnosis requires either 4 major criteria or 3 major and 2 minor criteria. Revised major criteria are retinal dystrophy, obesity (or overweight in individuals < 2 years old), congenital anomalies of the kidney and urinary tract or chronic kidney disease, hypogonadism/genital anomalies, neurodevelopmental/neurocognitive manifestations, and postaxial polydactyly. The diagnosis can also be established with a positive genetic testing result in patients exhibiting ≥ 1 major criterion, provided that genetic findings should be interpreted in the context of the patient's clinical presentation, age, family history, and overlap with related ciliopathies. These consensus criteria offer a simple algorithm incorporating updated definitions for major and minor criteria and genetic testing to support a timely and accurate diagnosis of patients with BBS, inform genetic counseling, and potentially facilitate earlier access to treatment. Trial Registration: CRIBBS Registry; ClinicalTrials.gov : NCT02329210

SummaryPaediatric weight management (PWM) programs in the United States (US) face challenges in providing sustainable multidisciplinary care for patients. The aim of this study was to report PWM program approaches to sustaining program delivery. A survey of 39 PWM programs was administered to identify challenges and solutions to program sustainability. Common and useful strategies for optimizing reimbursement for services included the use of applicable reimbursable diagnostic codes and management, billing for assessments and non‐medical personnel services, and the use of hospital outpatient department clinic billing. Increasing clinical breadth and capacity was achieved by offering telemedicine and other services, such as psychotherapy, pharmacotherapy, and metabolic and bariatric surgery, as well as active management of schedules. Securing institutional and extramural funding was also reported. One of the positive changes during the pandemic was the fast adoption of telemedicine services. Although delivering sustainable evidence‐based multidisciplinary PWM under the current US payment models has its challenges, PWM programs implement practical operational strategies to support this work.

Summary Objective To describe characteristics of paediatric weight management (PWM) programs across the United States and evaluate associations with program‐specific retention rates and body mass index (BMI) outcomes at 6 months. Methods A program profile survey was administered to 33 programs within the Paediatric Obesity Weight Evaluation Registry (POWER) to assess program staffing, services, and treatment format. Patient retention and percent of the 95th BMI percentile (%BMIp95) changes were assessed for each program. Results At 6 months program retention rates ranged from 15% to 74% (median: 41%), and program %BMIp95 changes ranged from −9.0 to +0.5 percentage points (median: −1.7). Percent of patients with ≥5 percentage‐point decrease in %BMIp95 ranged from 17% to 71% across programs (median: 29%). No associations were detected between program characteristics and retention or %BMIp95 changes. Conclusions Six‐month patient retention and BMI outcomes vary substantially in PWM programs across the United States. Yet, no associations were found between PWM treatment factors and these program‐level patient outcomes.

SummaryIntroductionTo better inform the field of obesity medicine, we set out to describe the current use of pharmacotherapy meant to improve patient weight status among a group of clinicians connected through the Paediatric Obesity Weight Evaluation Registry (POWER), as well as reasons behind clinicians' use or non‐use of the medications.MethodsPaediatric weight management (PWM) programs participating in POWER were asked to complete a program profile survey in 2014 (n = 30) and 2017 (n = 33); questions about pharmacotherapy use were included. Descriptive statistics were used to identify: (a) the proportion of PWM programs offering obesity pharmacotherapy; (b) the medications most commonly prescribed; and (c) reasons among non‐prescribers for not offering pharmacotherapy.ResultsThe 2014 and 2017 surveys were completed by 29 PWM programs (97%) and 30 PWM programs (91%), respectively. Twenty‐one programs completed both surveys. In 2014, 10 (34%) programs reported offering pharmacologic agents specifically for weight control, whereas in 2017, 16 (53%) reported offering pharmacotherapy for a primary indication of weight loss. Metformin was reported as the most commonly used agent in 2014, and topiramate in 2017. Largest reported increases in use over time were for topiramate and phentermine.DiscussionOur survey results demonstrate that a majority of this group of PWM programs offered pharmacotherapy to promote weight loss in patients with complications or associated medical conditions. There was a trend indicating increasing use over time, despite the significant gap regarding pharmacotherapy use in the literature.ConclusionsThese data suggest the need for (a) additional robust paediatric drug trials to further develop the evidence base guiding use or non‐use of pharmacotherapy in paediatric weight management, and (b) increased understanding of both facilitators and barriers to prescribing anti‐obesity pharmacotherapy for youth with obesity.