Neuroimaging in Kabuki syndrome and another KMT2D-related disorder.

Recognition of distinct phenotypic features is an important component of genetic diagnosis. Although CHARGE syndrome, Kabuki syndrome, and a recently delineated KMT2D Ex 38/39 allelic disorder exhibit significant overlap, differences on neuroimaging may help distinguish these conditions and guide genetic testing and variant interpretation. We present an infant clinically diagnosed with CHARGE syndrome but subsequently found to have a de novo missense variant in exon 38 of KMT2D, the gene implicated in both Kabuki syndrome and a distinct KMT2D allelic disorder. We compare her brain and inner ear morphology to a retrospective cohort of 21 patients with classic Kabuki syndrome and to typical CHARGE syndrome findings described in the literature. Thirteen of the 21 Kabuki syndrome patients had temporal bone imaging (5/13 CT, 12/13 MRI) and/or brain MRI (12/13) which revealed findings distinct from both CHARGE syndrome and the KMT2D allelic disorder. Our findings further elucidate the spectrum of inner ear dysmorphology distinguishing Kabuki syndrome and the KMT2D allelic disorder from CHARGE syndrome, suggesting that these three disorders may be differentiated at least in part by their inner ear anomalies.

High-frequency ultrasound in clinical dermatology: a review.

BACKGROUND: Ultrasound was first introduced in clinical dermatology in 1979. Since that time, ultrasound technology has continued to develop along with its popularity and utility. Today, high-frequency ultrasound (HFUS), or ultrasound using a frequency of at least 10 megahertz (MHz), allows for high-resolution imaging of the skin from the stratum corneum to the deep fascia. This non-invasive and easy-to-interpret tool allows physicians to assess skin findings in real-time, enabling enhanced diagnostic, management, and surgical capabilities. In this review, we discuss how HFUS fits into the landscape of skin imaging. We provide a brief history of its introduction to dermatology, explain key principles of ultrasonography, and review its use in characterizing normal skin, common neoplasms of the skin, dermatologic diseases and cosmetic dermatology. CONCLUSION: As frequency advancements in ultrasonography continue, the broad applications of this imaging modality will continue to grow. HFUS is a fast, safe and readily available tool that can aid in diagnosing, monitoring and treating dermatologic conditions by providing more objective assessment measures.

Interactive Session for Residents and Medical Students on Dermatologic Care for Lesbian, Gay, Bisexual, Transgender, and Queer Patients.

Introduction: Despite increasing emphasis on LGBTQ health in medical education, evidence-based training on LGBTQ patient care in dermatology is lacking. We designed an interactive online didactic session on dermatologic care of LGBTQ patients for medical students and dermatology residents. Methods: Session content was based on continuing medical education articles and incorporated preexisting LGBTQ-inclusive policies, environments, and videos. We implemented the session via a web-based videoconferencing platform as part of a preexisting resident lecture series. We began with a 90-minute lecture on LGBTQ health care disparities and dermatologists' roles, best practices for providing inclusive care, and dermatologic health concerns and screening recommendations in LGBTQ populations. To solidify knowledge and promote practice of learned skills, a 30-minute interactive role-playing session followed where participants acted as observer, patient, or provider in three distinct clinical scenarios pertaining to dermatologic care of LGBTQ patients. Participants completed baseline and follow-up surveys, which included a psychometrically validated clinical skills scale and an ad hoc knowledge assessment. Results: Baseline and follow-up scores from the clinical skills scale increased overall (0.7; 95% CI, 0.5-0.9; p < .001), in self-reported clinical preparedness (1.1; 95% CI, 0.5-1.6; p = .001), and in basic knowledge (0.8; 95% CI, 0.3-1.4; p = .003). Discussion: An online interactive didactive session on dermatological care of LGBTQ patients increased participants' clinical preparedness and basic knowledge. Implementation of similar sessions at other institutions can improve gaps in preparing residents and medical students in dermatological care of LGBTQ patients.

Dark-adapted threshold and electroretinogram for diagnosis of Usher syndrome.

PURPOSE: To determine the utility of ophthalmology evaluation, dark-adapted threshold, and full-field electroretinogram for early detection of Usher syndrome in young patients with bilateral sensorineural hearing loss. METHODS: We identified 39 patients with secure genetic diagnoses of Usher Syndrome. Visual acuity, spherical equivalent, fundus appearance, dark-adapted threshold, and full-field electroretinogram results were summarized and compared to those in a group of healthy controls with normal hearing. In those Usher patients with repeated measures, regression analysis was done to evaluate for change in visual acuity and dark-adapted threshold with age. Spherical equivalent and full-field electroretinogram responses from dark- and light-adapted eyes were evaluated as a function of age. RESULTS: The majority of initial visual acuity and spherical equivalent results were within normal limits for age. Visual acuity and dark-adapted threshold worsened significantly with age in Usher type 1 but not in Usher type 2. At initial test, full-field electroretinogram responses from dark- and light-adapted eyes were abnormal in 53% of patients. Remarkably, nearly half of our patients (17% of Usher type 1 and 30% of Usher type 2) would have been missed by tests of retinal function alone if evaluated before age 10. CONCLUSIONS: Although there is an association of abnormal dark-adapted threshold and full-field electroretinogram at young ages in Usher patients, it appears that a small but important proportion of patients would not be detected by tests of retinal function alone. Thus, genetic testing is needed to secure a diagnosis of Usher syndrome.

Cognitive Screening of Adults With Postlingual Hearing Loss: A Systematic Review.

OBJECTIVE: To systematically review the evidence for the use of cognitive screening tools for adults with postlingual hearing loss. DATA SOURCES: PubMed, Embase, Scopus, PsycINFO (EBSCO), CINAHL (EBSCO), and CENTRAL (Cochrane Library) electronic databases were searched from inception until October 4, 2018. REVIEW METHODS: Articles were reviewed for inclusion by 2 independent reviewers. The references of included articles were hand-searched for additional relevant articles. Data were extracted by 2 independent extractors. RESULTS: Of 2092 articles imported from the search, 81 were included for the review. Nearly a third (31%, n = 25) included patients with profound hearing loss. In total, 23 unique tools were used for 105 unique applications. The Mini Mental Status Exam (MMSE) was the most commonly used (54%, n = 55), followed by the Montreal Cognitive Assessment (MoCA) (19%, n = 10). Nearly half of the tools were used to define patient inclusion or exclusion in a study (48%, n = 50), followed by examination of a change after an intervention (26%, n = 27). Two articles attempted to study the validity of the MMSE and MoCA for screening patients with mild to moderate hearing loss and found mixed effects of the auditory components. There were no validation studies identified from the search. CONCLUSION: Many different cognitive screening tools have been used to study patients with postlingual hearing loss. The effects of the auditory components of these tools may be deleterious but ultimately remain unclear from the available evidence. To date, there has been no validation of any cognitive screening tool to be used for adults with postlingual hearing loss.

Torticollis in children with enlarged vestibular aqueducts.

OBJECTIVES: To evaluate the association between torticollis and enlarged vestibular aqueduct (EVA). METHODS: An online/phone survey was administered to parents of 133 children diagnosed with the following disorders: EVA, GJB2 (Connexin 26) mutations associated congenital hearing loss and epistaxis (control). The survey included questions regarding symptoms of torticollis, vertigo, and hearing loss. RESULTS: Patients with EVA had a 10-fold greater odds of having torticollis than controls (31% vs. 4%; OR = 10.6; 95% CI: 2.9, 39.2). No patients with GJB2 had a reported history of torticollis. Torticollis preceded the diagnosis of hearing loss in most (87%) patients with EVA who had a reported history of torticollis. EVA patients were more likely to have reported motor delay than controls (40% vs. 15%; p = 0.002). EVA patients with prior torticollis (80%; 12/15) were more likely to have balance impairment than EVA patients without prior torticollis (12%; 4/33; p < 0.001). Twelve patients had a reported history of paroxysmal torticollis, all of whom had EVA. CONCLUSION: Torticollis in infants may be a marker of EVA. Infants with torticollis should be monitored closely for hearing loss and motor delay, especially when the torticollis is paroxysmal.

Validation of a portable hearing assessment tool: Agilis Health Mobile Audiogram.

OBJECTIVES: To examine if the tablet-based Agilis Health Mobile Audiogram (Agilis Audiogram) is an effective and valid measure of hearing thresholds compared to a pure-tone audiogram in an adult and pediatric population. METHODS: Participants underwent an otologic exam, conventional audiometric evaluation and the self-administered Agilis Audiogram. We examined whether the difference of pure-tone average (PTA) between the two measurement techniques fell within the equivalence range of ±8 dB. The Agilis Audiogram was administered twice for each subject to assess test-retest reliability of the application. RESULTS: A total of 54 ears from 27 participants were evaluated. The average time to complete the self-administered Agilis Audiogram was 10 min. Among participants with normal hearing, the average PTA from conventional audiometric evaluation was 8.9 dB (±3.8) and the average PTA from the Agilis Audiogram was 8.5 dB (±4.5), with mean difference of 0.4 dB (±4.2; 95% CI -1.0 to 1.7 dB) falling within the equivalence range (-8 to 8 dB). Among participants with confirmed hearing loss, the average PTA was 22.5 dB (±17.1) from conventional audiometric evaluation and 24.3 dB (±16.6) from the Agilis Audiogram, with mean difference of -1.8 dB (±5.4; 95% CI -4.9 to 1.3 dB), falling within the equivalence range. Overall, there was a significant correlation between conventional audiometric evaluation and the Agilis Audiogram (Pearson correlation = 0.93; p < 0.001). CONCLUSION: Thresholds obtained by the Agilis Audiogram were found to be a valid measure of hearing among adults with normal hearing and children with hearing loss in the mild-moderate range.

Ambulatory Visits for Otitis Media before and after the Introduction of Pneumococcal Conjugate Vaccination.

OBJECTIVE: To examine the long-term trend of otitis media (OM)-associated ambulatory visits from 1997 to 2014 and to evaluate the impact of 7-valent and 13-valent pneumococcal conjugate vaccines (PCV7 and PCV13) on OM ambulatory visits. STUDY DESIGN: We examined OM-associated ambulatory visits in children, using the National Ambulatory Medical Care Survey and National Hospital Ambulatory Medical Care Survey. RESULTS: A total of 24 148 OM-related visits were identified from 363 240 ambulatory visits. OM visits accounted for 9.5% of all ambulatory visits in 1997-1999, 7.1% in 2002-2009, and 5.5% in 2012-2014. Between the pre-PCV7 and the post-PCV13 period, annual physician's office visits for OM declined from 826 to 387 visits per 1000 children among children younger than 2 years of age. Compared with the pre-PCV7 period, office visit rates for OM significantly declined by 51% (95% CI 42%-58%) among children younger than 2 years of age and by 37% (95% CI 23%-48%) among children 2-4 years of age during the post-PCV13 period. Among children younger than 2 years of age, emergency department visits for OM declined by 47% (95% CI 36%-55%) during the post-PCV13 period, and hospital outpatient visits declined by 30% (95% CI 8%-48%) during the PCV13-transition period. OM-related visits declined across sex, race/ethnicity, health insurance status, and geographic region. CONCLUSION: Our nationwide study shows that ambulatory visits for OM have declined following the introduction of PCV7 and PCV13. Future research on the evolving microbiology of OM and continued monitoring of the epidemiology of pneumococcal disease are needed.

Enlarged Vestibular Aqueduct and Cochlear Implants: The Effect of Early Counseling on the Length of Time Between Candidacy and Implantation.

OBJECTIVE: To determine if discussing cochlear implantation (CI) with patients with enlarged vestibular aqueducts (EVA) and their families before reaching audiological criteria for CI candidacy effects the length of time between reaching audiological candidacy and CI surgery, and to describe the universal newborn hearing screening (UNHS) results and communication modality in this sample. PATIENTS: Forty-two patients (25 females) with confirmed EVA and cochlear implants. INTERVENTION(S): Diagnostic CI visit. MAIN OUTCOME MEASURES: The primary outcome measure is the difference in length of time between reaching audiological candidacy for CI and surgical implantation between those who had preliminary discussions regarding CI with their medical and healthcare providers before reaching audiological candidacy versus who had discussions after reaching candidacy. The secondary outcome measure is the result of the UNHS and primary mode of communication used by each patient. RESULTS: Discussing CI before reaching audiological candidacy was associated with a significantly shorter duration between reaching audiological candidacy and receiving CI (median = 3.1 mo; interquartile range [IQR] = 1.7-5.4) as compared with discussing CI after reaching candidacy (median = 5.8 mo; IQR = 3.2-11.2; p = 0.012). Participants born after the implementation of the UNHS, 16 of 24 patients referred on one or both ears. Communication modalities were evenly divided between utilizing sign-support English and oral/aural communicators only. CONCLUSIONS: Discussion of CI in patients with EVA before reaching audiological candidacy reduces the amount of time the child is without adequate auditory access and contributes to a constructive and interactive preparatory experience.

Otolaryngologic Manifestations of Klippel-Feil Syndrome in Children.

IMPORTANCE: Children with Klippel-Feil syndrome (KFS), characterized principally by abnormal fusion of 2 or more cervical vertebrae, may have many additional congenital anomalies. The overall prevalence of otolaryngologic manifestations among patients with KFS has not been previously characterized. OBJECTIVE: To define the otolaryngologic diagnoses made and procedures performed in 95 patients with KFS, which, to our knowledge, is the largest series of this challenging patient population published to date. DESIGN, SETTING, AND PARTICIPANTS: For this retrospective review, all patients with KFS who underwent otolaryngology consultation at our institution over a 26-year period (January 1989 to December 2015) were included. Patients were identified using International Classification of Diseases, Ninth Revision (ICD-9) codes and were confirmed through individual medical record review. Relevant otolaryngologic diagnoses and procedures were extracted using ICD-9 and Current Procedural Terminology codes, respectively. Selected demographics included age, sex, number of clinic visits, and number of procedures. MAIN OUTCOMES AND MEASURES: The primary outcomes were the otolaryngologic diagnoses and procedures associated with the KFS patient population; the secondary outcome was Cormack-Lehane classification documented during airway procedures. RESULTS: Overall, 95 patients with KFS were included in this study (55 males [58%] and 40 females [42%]); mean (range) age at time of presentation to the otorhinolaryngology clinic was 5.8 (birth-23.0) years. Each patient with KFS averaged 8 visits to the otorhinolaryngology office and 5 otolaryngologic diagnoses. The most common diagnosis was conductive hearing loss (n = 49 [52%]), followed by sensorineural hearing loss (n = 38 [40%]), and dysphagia (n = 37 [39%]). Sixty-two (65%) patients underwent otolaryngologic procedures, with 44 (46%) undergoing multiple procedures. The most common procedure was tympanostomy tube placement (n = 36 [38%]), followed by office flexible endoscopy (n = 23 [24%]). Twelve of the 20 patients who underwent direct laryngoscopy had documented Cormack-Lehane classification; 5 of 12 patients (42%) had a compromised view (grade 2, 3, or 4) of the larynx. Three patients required tracheotomies at this institution for airway stabilization purposes; each had severe upper airway obstruction leading to respiratory failure. CONCLUSIONS AND RELEVANCE: Patients with KFS require consultation for a variety of otolaryngologic conditions. Among these, hearing loss is the most common, but airway issues related to cervical spine fusion are the most challenging. Formulating an appropriate care plan in advance is paramount, even for routine otolaryngology procedures.