Hearing Loss in Adults With Alström Syndrome-Experience From the UK National Alström Service.

OBJECTIVE: To characterize the patterns of hearing loss and methods of hearing rehabilitation in the UK national cohort of adults with Alström syndrome. STUDY DESIGN: Retrospective review of electronic patient records. SETTING: UK National multi-disciplinary team (MDT) Alström service held at the Queen Elizabeth Hospital, Birmingham. PATIENTS: Forty one adult patients with a diagnosis of Alström syndrome, confirmed via ALMS1 gene sequencing, are under ongoing review within the UK National MDT Alström service. MAIN OUTCOME MEASURES: Magnitude and type of hearing loss were analyzed using patients' audiometric data. Deterioration of hearing was calculated using serial pure tone audiograms. Methods of hearing rehabilitation used by patients and potential candidacy for cochlear implantation were analyzed. RESULTS: Of 34 patients with available audiograms, all had sensorineural hearing loss (SNHL). Dual sensory (visual and hearing) loss was present in 32/34 (94%) patients. Hearing deteriorated with advancing age, at 1.23 dB/yr. Severe- profound SNHL was present in 9/34 (26%) cases. Air conduction hearing aids were used in 27/34 (79%) cases, and cochlear implants in 2/34 (5%). CONCLUSIONS: Alström syndrome is an ultra-rare genetic disorder with progressive, debilitating multi-system manifestations, including SNHL. The UK National MDT Alström service represents one of the largest reported adult cohorts in the world. SNHL in this group was ubiquitous, showing a rapid decline in hearing with age. Annual audiometric assessment to enable early diagnosis of hearing loss and optimum rehabilitation are paramount to minimize the impact of hearing loss in this condition.

Twelve tips on how to compile a medical educator's portfolio.

Medical education is an expanding area of specialist interest for medical professionals. Whilst most doctors will be familiar with the compilation of clinical portfolios for scrutiny of their clinical practice and provision of public accountability, teaching portfolios used specifically to gather and demonstrate medical education activity remain uncommon in many non-academic settings. For aspiring and early career medical educators in particular, their value should not be underestimated. Such a medical educator's portfolio (MEP) is a unique compendium of evidence that is invaluable for appraisal, revalidation, and promotion. It can stimulate and provide direction for professional development, and is a rich source for personal reflection and learning. We recommend that all new and aspiring medical educators prepare an MEP, and suggest twelve tips on how to skillfully compile one.