Musculoskeletal phenotypes in 3q29 deletion syndrome.

3q29 deletion syndrome (3q29del) is a rare genomic disorder caused by a 1.6 Mb deletion (hg19, chr3:195725000-197350000). 3q29del is associated with neurodevelopmental and psychiatric phenotypes, including an astonishing >40-fold increased risk for schizophrenia, but medical phenotypes are less well-described. We used the online 3q29 registry of 206 individuals (3q29deletion.org) to recruit 57 individuals with 3q29del (56.14% male) and requested information about musculoskeletal phenotypes with a custom questionnaire. 85.96% of participants with 3q29del reported at least one musculoskeletal phenotype. Congenital anomalies were most common (70.18%), with pes planus (40.35%), pectus excavatum (22.81%), and pectus carinatum (5.26%) significantly elevated relative to the pediatric general population. 49.12% of participants reported fatigue after 30 min or less of activity. Bone fractures (8.77%) were significantly elevated relative to the pediatric general population. Participants commonly report receiving medical care for musculoskeletal complaints (71.93%), indicating that these phenotypes impact quality of life for individuals with 3q29del. This is the most comprehensive description of musculoskeletal phenotypes in 3q29del to date, suggests ideas for clinical evaluation, and expands our understanding of the phenotypic spectrum of this syndrome.

Telehealth in Orthopedic Sports Medicine: A Survey Study on Patient Satisfaction and Experience.

Background: Telehealth has seen breakthroughs in many fields of medicine, but utilization remains limited in orthopedic sports medicine. The purpose of this investigation was to compare patient satisfaction, duration of care, and overall patient experiences with telehealth and in-person clinical visits for sports-related injuries. Methods: A cross-sectional survey study was conducted at an orthopedic sports medicine clinic during the peak of the COVID-19 pandemic between March and November 2020. Anonymous electronic surveys were used to record patient responses and statistical comparisons were drawn through two-sample t-tests. Results: A total of 175 patients (82 telehealth vs. 93 in-person) consented to participate in this investigation, and all were included in the final analysis. The overall composite satisfaction score, when compared between the two groups, did not differ (p = 0.63). Duration of care was significantly longer in the 93 patients who had in-person clinical visits as compared with the 82 patients who had telehealth visits (61/93: >31 min vs. 75/82: <30 min; p < 0.001). Finally, of the 82 patients who had telehealth, 3 respondents said they were "very unlikely" and "unlikely" to request another virtual clinical visit and/or recommend this mode of health care delivery to friends or family. Of the 93 patients had in-person clinical visits, only 15 respondents stated they were uninterested in telehealth under any circumstance. Conclusion: Most patients presenting to an orthopedic sports medicine clinic are open to telehealth, recognize its utility, and believe it to be just as comparable with in-person clinical visits. Level of Evidence: IV.

Musculoskeletal phenotypes in 3q29 deletion syndrome.

3q29 deletion syndrome (3q29del) is a rare genomic disorder caused by a 1.6 Mb deletion (hg19, chr3:195725000â€"197350000). 3q29del is associated with neurodevelopmental and psychiatric phenotypes, including an astonishing >40-fold increased risk for schizophrenia, but medical phenotypes are less well-described. We used the online 3q29 registry ( 3q29deletion.org ) to recruit 57 individuals with 3q29del (56.14% male) and requested information about musculoskeletal phenotypes with a custom questionnaire. 85.96% of participants with 3q29del reported at least one musculoskeletal phenotype. Congenital anomalies were most common (70.18%), with pes planus (40.35%), pectus excavatum (22.81%), and pectus carinatum (5.26%) significantly elevated relative to the pediatric general population. 49.12% of participants reported fatigue after 30 minutes or less of activity. Bone fractures (8.77%) were significantly elevated relative to the pediatric general population, suggesting 3q29del impacts bone strength. Participants commonly report receiving medical care for musculoskeletal complaints (71.93%), indicating that these phenotypes impact quality of life for individuals with 3q29del. This is the most comprehensive description of musculoskeletal phenotypes in 3q29del to date, suggests ideas for clinical evaluation, and expands our understanding of the phenotypic spectrum of this syndrome.