Rabatin, Amy E.

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 Scapular winging (SW) describes abnormal scapular mechanics from weak stabilizing muscles or altered neural innervation. While electromyography (EMG) helps differentiate between myo‐ or neuropathic SW etiologies and determine the extent of muscle involvement, pediatric EMG may be limited due to the high risk of surrounding structures, small body habitus, and pain tolerance. Herein is a case of pediatric SW following anterior neck lymphadenopathy resection in which EMG was limited. Neuromuscular ultrasound (NMUS) showed asymmetric trapezius thinning and hyperechogenicity, revealing more expansive involvement than was previously known. NMUS is a painless, validated tool to augment the diagnostic capability of EMG and clarify the extent of neuromuscular involvement in SW from both a prognostic and rehabilitation point of view.

ImportanceThis is the first population-based study quantifying the incidence of nonsynostotic positional plagiocephaly and/or brachycephaly (PPB) in infancy and its association with developmental disorders.ObjectiveTo report the incidence of PPB before age 1 year, the incidence of craniosynostosis, and the percentage of children with PPB diagnosed with a developmental disorder by age 7 years.Design, Setting, and ParticipantsThis was a retrospective, population-based cohort study of children in the Rochester Epidemiology Project (REP) born in Olmsted County, Minnesota, from January 1, 2008, through December 31, 2012, with follow-up through age 7 years. Data were analyzed from March 2021 to April 2024.ExposurePhysical examination detecting cranial deformity.Main Outcomes and MeasuresThe primary outcome was the incidence of PPB. Secondary outcomes were the incidence of craniosynostosis and the percentage of children with PPB diagnosed with a developmental disorder by age 7 years.ResultsOf 9909 infants (5084 [51.3%] male; 9205 [92.9%] born at term and 704 [7.1%] born preterm) included in the study, 575 had PPB, for a PPB incidence of 5.8% (95% CI, 5.3%-6.3%). The incidence of PPB was 5.3% (95% CI, 4.8%-5.8%) in term infants vs 11.8% (95% CI, 9.4%-14.6%) in preterm infants. The incidence of craniosynostosis was 0.16% (95% CI, 0.09%-0.26%). A developmental disorder was known or suspected in 4.2% (95% CI, 2.7%-6.2%) of infants at the time of PPB diagnosis; among 402 infants with PPB and follow-up through age 7 years, 30 (7.5%; 95% CI, 5.0%-10.7%) had a confirmed developmental disorder by 7 years of age. The prevalence of autism spectrum disorder (ASD) in children with a history of PPB who were followed up to age 7 years was 2.2% (9 of 402 children).Conclusions and RelevanceThis study found that only a small percentage of the infants had positional head deformity significant enough to be documented and/or referred for subspecialty evaluation, and only a small subset of these children went on to have a developmental disorder in childhood. This information is helpful for counseling families about their child’s developmental risk at time of PPB diagnosis.

To investigate the domains of physical activity in children with cerebral palsy (CP) and to compare these findings to typically developed (TD) children. Methods: A cross-sectional study design. Responses of the four domains in Play Lifestyle and Activity in Youth (PLAY) questionnaire were descriptively analyzed and compared between children with CP (GMFCS I-II) and TD children. Results: Fifty-three children with CP (N = 53, 36 males and 17 females, age of 8.4 ± 1.7 years) and 58 TD children (N = 58, 34 males and 24 females, age of 7.6 ± 1.4 years) participated in this study. In analyses of daily behavior, reported participation in weekly (adaptive) physical education (PE) and sports were more frequent in children with CP (0.6 ± 0.5 days per week) compared to TD children (0.4 ± 0.6 days per week, p = 0.040). Outside play time including free play, organized (adaptive) sports and recess were higher in children with CP (2.7 ± 0.8 days per week) than TD children (2.4 ± 0.7 days per week, p = 0.022). About motivation/attitudes, a higher proportion of TD children feel sad if they are not able to play sports during the day (74.1%) compared to children with CP (48.7%, p < 0.001). Conclusion: Physical activity level was comparable between children with CP and age-matched TD children, while TD children showed higher scores in knowledge and understanding, motivation/attitudes, and physical competence.

The COVID-19 pandemic has accelerated many changes in medicine including the transition from providing care in person to providing care via technology enabled telemedicine. The benefits of telemedicine visits with a Pediatric Rehabilitation Medicine (PRM) provider, also known as telerehabilitation medicine visits, are numerous. Telerehabilitation medicine provides an opportunity to deliver timely, patient and family-centric rehabilitation care while maintaining physical distance and reducing potential COVID-19 exposure for our patients, their caregivers and medical providers. Telerehabilitation medicine also allows for access to PRM care in rural areas or areas without medical specialty, virtual in-home equipment evaluation, and reduced travel burden. Because of these and many other benefits, telerehabilitation medicine will likely become part of our ongoing model of care if barriers to telemedicine continue to be lowered or removed. This paper is intended to establish a foundation for pediatric telerehabilitation medicine visit efficiency and effectiveness in our current environment and into the future.