Biggs, Bridget K

ABSTRACT Bardet‐Biedl syndrome (BBS) is a rare autosomal recessive disorder characterized by clinical and genetic heterogeneity. Data on the prevalence of clinical manifestations and comorbidities in BBS, particularly in pediatric patients, are limited. This study aimed to assess the prevalence and various manifestations of endocrine and other clinical comorbidities among pediatric and adult patients with BBS. This retrospective chart review included pediatric and adult patients with BBS evaluated at an academic tertiary care center in the United States between 2000 and 2024. The study included 31 patients (7 children and 24 adults) with seven identified pathogenic variants associated with BBS. The most common genetic etiology was biallelic variants in BBS1 (36%). Obesity was diagnosed in 86% of children and 100% of adults. No children had diabetes or prediabetes, whereas 46% of adults were affected. Dyslipidemia was identified in 29% of children and 46% of adults. No thyroid abnormalities were identified in children, whereas 25% of adults were affected. Retinal dystrophy was present in 71% of children and 96% of adults. Polydactyly was observed in 100% of children and 75% of adults. Chronic kidney disease was present in 29% of children and 63% of adults. This study highlights the clinical heterogeneity and substantial multisystem burden of BBS across pediatric and adult patients. The greater prevalence of diabetes/prediabetes, dyslipidemia, thyroid abnormalities, chronic kidney disease, and visual impairment among adults suggests that these complications may emerge or progress over time. Early recognition, proactive longitudinal surveillance, and comprehensive multidisciplinary care are essential to optimize management across the lifespan.

ABSTRACT Objectives Cognitive behavioral therapy (CBT) is the most researched treatment for childhood anxiety disorders (CADs). Improving outcomes and efficiency of CBT will require identifying and optimizing the most efficacious therapeutic components. Towards this end, a recent randomized controlled trial (RCT) found that Parent Coached Exposure Therapy (PCET) led to greater symptom improvement in less time than traditional CBT. To better understand and maximize these advantages, the current study explores the timing and course of symptom improvement in these two treatments for CADs, CBT, and PCET. Methods In this secondary analysis of data from the RCT, 56 youth aged 7−17 years (73.2% female) and a parent provided weekly ratings of anxiety symptom severity. Results The mean anxiety severity ratings decreased significantly in both conditions, but a significant condition by time interaction suggested that the pace of change differed between treatment for parent report, F (6.2, 335) = 2.96, p = 0.007. A series of post‐hoc comparisons indicated that the ratings became significantly lower in the PCET group beginning in session 3 (effect size = 0.77) through post‐treatment assessment. In addition, within each treatment condition the largest change in severity ratings occurred after the introduction of exposure, effect sizes of 0.68 for PCET and 0.56 for CBT. The child severity ratings followed a similar pattern but did not reach statistical significance. Discussion The implications of these exploratory and hypothesis‐generating findings for designing treatment protocols to deliver exposure in a manner to maximize the amount, and pace, of improvement are discussed.

It is unknown how many children with obesity are offered treatments aligned with clinical practice guidelines. This study examined electronic medical record data from a Midwest, USA, health system to quantify referrals to obesity treatment among patients 2–17 years old with obesity presenting for well-child visits in 2022 and/or 2023. Mixed-effects logistic regression models tested associations of referral placement with child characteristics, the Area Deprivation Index, and distance to specialty care. Of 14,893 patients, 591 (4.0%) received a referral. Referrals were associated with severe obesity ( p < 0.001), older age ( p < 0.001), proximity to specialty care ( p < 0.001), number of well-visits ( p ≤ 0.001), and identification with a minoritized race or ethnicity ( p < 0.05–0.001). Findings indicate a large gap from the current state of referrals to alignment with practice guidelines for pediatric obesity. Furthermore, research needs to explore and address barriers to referrals and treatment access.

Abstract Interventions for adolescent weight management that are ready to use in clinical settings are needed to address the obesity epidemic and improve the health and wellbeing of affected adolescents. This report describes the systematic process our team followed to adapt an evidence-based intervention (EBI) for adolescent weight management from its randomized control trial protocol to a package for delivery in a group-based telehealth format within a medical center. The EBI adaptation was clinician initiated, prompted by identified practice needs, and involved collaboration of the clinical team with the EBI developer. The process was guided by the Reach, Effectiveness, Adoption, Implementation, Maintenance (RE-AIM) framework and followed key steps for adapting EBIs to new contexts. RE-AIM-aligned adaptations included telehealth delivery and broader inclusion criteria, separate clinical and research evaluation batteries, adaptations to fit the clinical practice, practical fidelity checklists to guide and record session delivery, and continuous quality improvement processes aimed to facilitate program longevity and family engagement. The process culminated in a package of adapted intervention materials deemed by stakeholders as appropriate to the practice and congruent with the EBI model. This report provides a much-needed practical demonstration of the translation of an EBI for adolescent weight management from research protocol to group telehealth delivery in a medical center. Key lessons include the value of clinician-researcher collaboration, the breadth of resources needed to adapt EBIs for real-world delivery, and the importance of considering delivery context in implementation and evaluation decisions, including defining inclusion criteria, staffing, and outcomes assessments.

Objective: This report describes data regarding the acceptability of delivering a family-based behavioral lifestyle intervention for adolescent obesity in a brief, intensive onsite program (initial 3 sequential days + 1 follow-up day) combined with telephonic wellness coaching (WC). Methods: Four cohorts consisting of 7 adolescents aged 15–17 years (self-identifying as 4 male, 2 female, 1 transgender male; 6 White, 1 African American and White) and thirteen parents participated in a new clinical intervention consisting of 3 days onsite programming, 3-months telephonic wellness coaching, and 1 day onsite follow up. Enrollment, attendance, and retention were recorded. Participants provided quantitative and qualitative feedback regarding acceptability of the program during postintervention interviews. Results: Of 11 families invited, 8 enrolled. Seven families participated, with 1 family lost to follow up. Adolescents completed an average 5.6/9 planned WC sessions. Adolescents rated the program positively overall and liked experiential sessions best. However, participants reported the onsite program was too long, they encountered barriers to sustained engagement during wellness coaching follow up, and parents desired greater guidance and structure for their involvement. Conclusions: Combining in-person sessions with telephonic wellness coaching was acceptable to participants, but intervention refinement is needed. Future program development and research investigating hybrid models should consist of briefer in-person sessions, emphasize skill practice, and include ongoing guidance to parents to provide developmentally appropriate support. Implications for Impact Statement This new clinical program evaluation found that extending onsite family-based behavioral lifestyle intervention for adolescent obesity with telephonic wellness coaching was acceptable to participants, but that program refinement is needed. Feedback highlighted the importance of keeping onsite sessions brief, engaging adolescents with hands-on skill practice, and providing ongoing guidance to parents to support sustained adolescent engagement in behavior change.

AbstractObjectiveYouth with chronic orthostatic intolerance (OI) can experience significant physical, social, and academic functional debilitation. Previous studies have indicated associations among symptom severity, psychosocial factors, and functional disability. However, empirically tested models explaining how different medical and psychosocial factors may contribute to functional disability are lacking. The current cross-sectional study aimed to evaluate mediation, moderation, and additive models of the effect of physical symptoms and psychological distress on functional disability.MethodsOne hundred and sixty-five youth (13–22 years old) undergoing medical evaluation of chronic OI symptoms completed measures of autonomic dysfunction symptom severity, depressive and anxiety symptoms, and functional disability. Models were evaluated using tests of indirect effects and linear and logistic regression analyses.ResultsResults supported the mediation and additive effects models for depressive symptoms. Mediation, moderation, and additive models for hypothesized effects of anxiety symptoms were not supported.ConclusionsResults provide preliminary support for models in which OI symptoms affect functional debility via their effects on mood and in which depressive symptoms have unique and additive effects on functioning. Findings lay the foundation for longitudinal and experimental evaluation of biopsychosocial models of functional disability in youth with chronic OI and related conditions. Implications include the importance of a biopsychosocial conceptualization of OI symptoms and debility as a complex interplay of factors rather than as a purely physiological or psychological process.

Among adolescents with fatigue and postural dizziness, it is unclear how health behaviors and emotional distress relate to the presence of excessive postural tachycardia. We prospectively evaluated adolescents aged 13-22 years presenting with symptoms suggestive of autonomic dysfunction between September 2017 and December 2018. Patients underwent standard 10-minute, 70-degree head-up tilt testing. Clinician diagnoses and recommendations were recorded from the medical record. Patients completed validated self-report measures of lifestyle factors, autonomic symptoms, depression, anxiety, and functional disability. Of 179 patients, 58 were diagnosed with postural orthostatic tachycardia syndrome and 59 had excessive postural tachycardia, with 90.5% concordance between the 2 groups. Presence of excessive postural tachycardia was associated with greater baseline fluid intake and likelihood of medication prescription in their treatment plan. Medication findings were replicated for postural orthostatic tachycardia syndrome diagnosis. Presence of excessive postural tachycardia or postural orthostatic tachycardia syndrome did not differentiate patients on perceived symptom severity, emotional distress, disability, or health behaviors but did appear to determine treatment recommendations.

The study aim was to test hypotheses informed by self-determination theory (SDT) regarding associations of adolescent motivators for weight loss and family feeding practices on understanding adolescent weight management and dietary behaviors. Adolescents (n = 71) with obesity were recruited from a large medical center in the Midwest USA and completed questionnaire assessments via an online survey. Results supported hypotheses that endorsement of health motivators for weight loss, conceptualized as autonomous (intrinsic) motivation, and positive family support would be associated with healthier weight management practices and dietary behaviors. Nuanced findings related to social- and self-esteem-related motivators for weight loss indicated a need for further understanding of these weight-loss motivators in the context of SDT. The current study findings highlight the importance of addressing motivational factors and family influences in research and practice related to promoting healthy dietary habits and weight management strategies among adolescents with obesity.

Despite the efficacy of exposure for childhood anxiety disorders (CADs), dissemination has been unsuccessful. The current study examined community-therapist response to a brief (90-minutes) training in technology-assisted exposure therapy for CADs. The results indicated that therapists found the training in the therapy approach and technology acceptable, despite endorsing mainly non-exposure-based practice prior to the training. Training also increased positive beliefs about exposure, t (23) = 4.32, p < .000, that persisted 6 months later, t (23) = 4.56, p < .000. In addition, the number of therapists reporting an intention to implement exposure increased substantially from baseline (41.7%) to post-training (83.3%), with many therapists (70.8%) reporting use of exposure within the 6 months following training. However, automatically recorded data indicated little use of the technology. Results suggest that a dissemination message focusing on exposure is acceptable and has the potential to increase the use of this central treatment component.