ABSTRACT
OBJECTIVE: The aim is to recommend a minimum standard set of clinician-reported outcome measures (CROMs) and patient-reported outcome measures (PROMs) on hearing for people with osteogenesis imperfecta (OI). This project is part of the larger "Key4OI" project initiated by the "Care4BrittleBones foundation" of which the goal is to improve quality of life of people with OI. Key4OI provides a standard set of outcome measures and covers a large set of domains affecting the well-being of people with OI. METHODS: An international team of experts in OI, comprising specialists in audiological science, medical specialists, and an expert patient representative, used a modified Delphi consensus process to select CROMs and PROMs to evaluate hearing problems in people with OI. In addition, focus groups of people with OI identified key consequences of their hearing loss. These criteria were matched to categories of preselected questionnaires to select a PROM that matched their specific hearing-related concerns best. RESULTS: Consensus on PROMs for adults and CROMs for adults and children was reached. The focus of the CROMs was on specific audiological outcome measures and standardized follow-up. CONCLUSIONS: This project resulted in a clear consensus statement for standardization of hearing-related PROMs and CROMs and follow-up management of patients with OI. This standardization of outcome measurements will facilitate comparability of research and easier international cooperation in OI and hearing loss. Furthermore, it can improve standard of care in people with OI and hearing loss by incorporating the recommendations into care pathways.
Subject(s)
Deafness , Hearing Loss , Osteogenesis Imperfecta , Adult , Child , Humans , Osteogenesis Imperfecta/complications , Quality of Life , Hearing , Hearing Loss/etiology , Outcome Assessment, Health CareABSTRACT
Superior semicircular canal dehiscence (SSCD) syndrome is an increasingly recognized cause of vestibular and/or auditory symptoms in both adults and children. These symptoms are believed to result from the presence of a pathological mobile "third window" into the labyrinth due to deficiency in the osseous shell, leading to inadvertent hydroacoustic transmissions through the cochlea and labyrinth. The most common bony defect of the superior canal is found over the arcuate eminence, with rare cases involving the posteromedial limb of the superior canal associated with the superior petrosal sinus. Operative intervention is indicated for intractable or debilitating symptoms that persist despite conservative management and vestibular sedation. Surgical repair can be accomplished by reconstruction or plugging of the bony defect or reinforcement of the round window through a variety of operative approaches. The authors review the etiology, pathophysiology, presentation, diagnosis, surgical options, and outcomes in the treatment of this entity, with a focus on potential pitfalls that may be encountered during clinical management.
Subject(s)
Labyrinth Diseases/diagnosis , Semicircular Canals/pathology , Humans , Labyrinth Diseases/pathology , Labyrinth Diseases/surgery , Neurosurgical ProceduresABSTRACT
Osteogenesis imperfecta (OI) is the most common heritable disorder of connective tissue. It is associated with fractures following relatively minor injury, blue sclerae, dentinogenesis imperfecta, increased joint mobility, short stature, and hearing loss. Structures in the otic capsule and inner ear share in the histologic features common to other skeletal tissues. OI is due to mutations involving several genes, the most commonly involved are the COL1A1 or COL1A2 genes which are responsible for the synthesis of the proalpha-1 and proalpha-2 polypeptide chains that form the type I collagen triple helix. A genotype/phenotype relationship to hearing loss has not been established in OI. Hearing loss is commonly found in OI with prevalence rates ranging from 50 to 92% in some studies. Hearing loss in OI may be conductive, mixed, or sensorineural and is more common by the second or third decade. Treatment options such as hearing aids, stapes surgery, and cochlear implants are discussed.
Subject(s)
Health Knowledge, Attitudes, Practice , Health Status , Tinnitus/prevention & control , Humans , PulseABSTRACT
El vértigo posicional paroxistico benigno, es la causa más frecuente de vértigo, responsable hasta del 20 porciento de todos los casos de vértigo y de por lo menos la mitad de todos los casos de vértigo periferico. Si se sabe cómo diagnosticar esta frecuente enfermedad a menudo es posible evitar un elaborado e innecesario trabajo de diagnóstico y resolver los síntomas de manera precoz
