Telehealth Adoption and Perspectives Among Pediatric Otolaryngologists Following the COVID-19 Pandemic.

OBJECTIVES: To assess use of and physician experiences with pediatric otolaryngology telehealth visits as impacted by the COVID-19 pandemic. STUDY DESIGN/SETTING: Cross sectional survey. METHODS: A 15-question survey was electronically distributed to 656 members of the American Society of Pediatric Otolaryngology in August 2021, addressing member demographics, experiential practice elements, and use pre-pandemic, during the initial shutdown period of March-May 2020, and current use at the time of survey inquiry. RESULTS: There were 124 respondents (response rate = 18.9%). Incident use pre-pandemic and during the shutdown were 21.0% (n = 26), and 92.7% (n = 115), respectively. Current use was 83.9% (n = 104) and the percentage of new current users (79.5%, n = 78) was significant (P < .0001,95% CI = 70.6%-86.4%). Estimated median telehealth visit rates pre-pandemic, during shutdown, and currently were 0 to 1, 4 to 5, and 2 to 3 per week, respectively (P < .0001). A difference in post-covid adoption rates was noted only for location (P = .008), with no differences for years out of training or practice type. Compared to in-person visits, physician satisfaction with telehealth visits was rated equivalent (49.0%) or worse/much worse (48.1%). The most common telehealth uses were follow-up visits (83.7%), pre-operative counseling (76.9%), and post-operative evaluation (69.2%). The need for a detailed exam (89.4%) and initial visits (32.7%) were reasons a telehealth visit was not offered. CONCLUSIONS: The COVID-19 pandemic appears to have precipitated a rapid increase in telehealth adoption among surveyed pediatric otolaryngologists, regardless of age or practice type. The most significant limitations remain the need for a detailed exam, perceived low patient technological literacy, and limitations to interpretive services. Technology-based optimization of these barriers could lead to increased use and physician satisfaction.

Gorlin-like phenotype in a patient with a PTCH2 variant of uncertain significance.

Gorlin syndrome, also known as Nevoid Basal-Cell Carcinoma Syndrome (NBCCS), is an autosomal dominant tumor predisposition syndrome that presents early in life with characteristic congenital malformations and tumors. This syndrome most commonly results from germline mutations of the PTCH1 tumor suppressor gene, which shows high penetrance and great intra and interfamilial phenotypic variability, as well as the SUFU tumor suppressor gene. Recently, the PTCH2 gene has also been implicated as a cause of Gorlin syndrome. Notably, these patients displayed milder phenotypes of Gorlin syndrome when considered against PTCH1 and SUFU-related disease. We report a patient with a novel PTCH2 mutation inherited from his father. The proband displays several minor diagnostic features of Gorlin syndrome, supporting the pathogenic role of this gene. Features in the proband include macrocephaly, a wide face, prominent forehead, hypertelorism/telecanthus, large eyes, cleft lip and palate, thin vertical palmar creases, penoscrotal inversion, and a hyperpigmented spot on his penis. His father displays macrocephaly, several nevi on his back and shoulders, and a single palmar pit on his left hand, raising suspicion for Gorlin syndrome. Whole exome sequence (trio) found that the proband and father are heterozygous for NM_003738.4:c.3347C>T;p.(Pro1116Leu) in exon 21 of PTCH2, found also in his mildly affected brother. This semi-conservative amino acid substitution has been reported in the literature, but its significance is unclear. Notably, the proband, brother, and father do not meet clinical criteria for Gorlin syndrome. However, the clinical findings described in this family support the association between PTCH2 mutations and Gorlin-like phenotypes.

Novel De Novo EFTUD2 Mutations in 2 Cases With MFDM, Initially Suspected to Have Alternative Craniofacial Diagnoses.

We report 2 cases of mandibulofacial dysostosis with microcephaly (MFDM) with different and novel de novo mutations in the elongation factor Tu GTP binding domain containing 2 gene. Both cases were initially thought to have alternative disorders but were later correctly diagnosed through whole-exome sequencing. These cases expand upon our knowledge of the phenotypic spectrum in patients with MFDM, which will aid in defining the full phenotype of this disorder and increase awareness of this condition.