Microtia

Microtia is a congenital malformation that is characterized by variation in severity and its association with other anomalies. Microtia may be a clinical sign of certain syndromes. A typical microtia patient has such a visible malformation that reconstructive surgery of the auricle is desired. In addition to the malformed auricle, both the ear canal and middle ear are usually anomalous causing considerable hearing impairment. This thesis identifies the characteristics of microtia in the Finnish population and detects the existence of familial (hereditary) microtia in Finland. The first learning curve study of reconstructive surgery for microtia is presented. In addition, we have studied the association between auricular malformations and orofacial clefts. The study population for phenotypic characterization consisted of 190 patients referred for reconstruction of the auricle. Of this population, 109 patients were involved in the hereditary study. The learning curve study is based on 51 microtia reconstructions. The study of auricular malformations and clefts includes 100 patients. These studies show that the characteristics of microtia in Finland are for the most part similar to other populations, but there is a high variation in prevalences in different populations. The overall global prevalence is around 2.1/10 000 births compared to 4.3/10 000 in Finland. The proportion of familial microtia in the Finnish population is over 20% and the mode of inheritance seems to be autosomal dominant with incomplete penetrance. The learning curve for microtia reconstruction is long and this finding strongly suggests national centralization of treatment. Microtia seems to be the most common ear malformation in cleft patients. The prevalence of microtia increases as the severity of cleft lip increases. This trend was not present in patients with cleft palate only. Improvement in surgical techniques, the development of biocompatible reconstructive materials, and advances in audiological equipment and diagnostic imaging have improved the ways that a patient with microtia is examined and treated.Mikrotia tarkoittaa synnynnäisesti pientä ja epämuodostunutta korvalehteä. Mikrotian vaikeusaste vaihtelee ja siihen voi liittyä myös muita rakennepoikkeavuuksia. Se voi liittyä myös oireyhtymään. Korvalehden epämuodostumaan liittyy yleensä korvakäytävän ja välikorvan rakennepoikkeavuuksia, jonka vuoksi epämuotoisen korvalehden puolella on myös huono kuulo. Korvalehden epämuodostuman voi korjata kirurgisesti. Tässä väitöskirjassa esitellään mikrotian erityispiirteet ja perinnöllisyys suomalaisessa väestössä. Lisäksi tutkimuksissamme selvitimme korvalehden kirurgisen rakentamisen oppimiskäyrän. Koska korvalehti muodostuu sikiökaudella osittain samoista aiheista kuin suu ja kasvot, selvitimme tutkimuksissamme myös korvalehden epämuodostumien ja huuli-suulakihalkioiden välisiä yhteyksiä. Suomalaisten mikrotiapotilaiden erityispiirtietä selvitettiin tutkimuksessa, jossa oli yhteensä 190 HYKS:n Huuli-ja suulakihalkiokeskukseen ohjattua potilasta. Näistä 109 potilasta osallistui myös perinnöllisyystutkimukseen. Oppimiskäyrätutkimuksessa oli yhteensä 51 potilasta, joilla kaikilla oli vaikeusasteeltaan samankaltainen korvalehden epämuodostuma ja korjausleikkauksen teki kaikille potilaille sama kirurgi. Korvalehden epämuodostumien, myös muiden kuin mikrotian, ja huuli- ja suulakihalkioiden välisiä yhteyksiä tutkittiin sadalla potilaalla. Tukimustemme mukaan suomalaisilla mikrotiapotilailla ei näytä olevan erityispiirteitä, kun vertailimme heidän löydöksiään useiden muiden maiden tutkimuslöydöksiin. Mikrotian esiintyvyydessä on kuitenkin paljon vaihtelua. Kun keskimääräinen esiintyvyys on 2.1/10 000 syntynyttä lasta maailmassa, on se Suomessa 4.3/10 000. Perinnöllisten mikrotiatapausten osuus on yli 20 % Suomessa. Periytymismuoto on todennäköisimmin autosomaalinen ja vallitseva, penetranssin ollessa epätäydellinen. Oppimiskäyrä korvalehden rakentamisessa on pitkä ja tämän löydöksen perusteella kyseinen toimenpide kannattaa keskittää Suomessa. Tutkimuksissamme selvisi myös, että mikrotia on halkiopotilaiden yleisin korvalehden poikkeavuus. Huulihalkion vaikeusasteen lisääntyessä mikrotian esiintyvyys lisääntyi näillä potilailla. Suulakihalkiopotilailla ei vastaavaa suuntausta pystytty osoittamaan. Kirurgisten tekniikoiden, ihmiskehon sietämien keinotekoisten rakennusmateriaalien, kuulon apuvälineiden ja diagnostisen kuvantamisen kehitys ovat tuoneet lisää vaihtoehtoja mikrotiapotilaiden tutkimiseen ja hoitamiseen

Development of otology specific outcome measure : Ear Outcome Survey-16 (EOS-16)

Purpose: An important outcome measure of patient care is the impact on the patient's health-related quality of life (HRQoL). Current ear-specific HRQoL instruments are designed for one diagnosis and emphasize different subdivisions such as symptoms, hearing problems, psychosocial impact, and the need for care. The optimal length of the recall period has not been studied. For these reasons, a new survey is needed that would cover most chronic ear diseases. Methods: A preliminary 24-item survey (EOS-24) was created. Untreated adult patients (included n = 186) with one of seven different chronic otologic conditions from all university hospitals in Finland were recruited to respond to EOS-24 and the 15D general HRQoL instrument. The recruiting otologists evaluated the severity of the disease and the disability caused by it. A control group was recruited. Based on the patients' responses in different diagnosis groups, the items were reduced according to pre-defined criteria. The resulting survey was validated using a thorough statistical analysis. Results: The relevance and necessity of the original 24 items were thoroughly investigated, leading to the exclusion of 8 items and the modification of 1. The remaining 16 items were well-balanced between subdivisions and were useful in all seven diagnosis groups, thus constituting the final instrument, EOS-16. The most suitable recall period was three months. Conclusions: EOS-16 has been created according to the HRQoL survey guidelines with a versatile nationwide patient population. The survey has been validated and can be used for a wide range of chronic ear diseases as a HRQoL instrument. (C) 2021 PLA General Hospital Department of Otolaryngology Head and Neck Surgery. Production and hosting by Elsevier (Singapore) Pte Ltd.Peer reviewe

Development of otology specific outcome measure: Ear Outcome Survey-16 (EOS-16)

PurposeAn important outcome measure of patient care is the impact on the patient’s health-related quality of life (HRQoL). Current ear-specific HRQoL instruments are designed for one diagnosis and emphasize different subdivisions such as symptoms, hearing problems, psychosocial impact, and the need for care. The optimal length of the recall period has not been studied. For these reasons, a new survey is needed that would cover most chronic ear diseases.MethodsA preliminary 24-item survey (EOS-24) was created. Untreated adult patients (included n = 186) with one of seven different chronic otologic conditions from all university hospitals in Finland were recruited to respond to EOS-24 and the 15D general HRQoL instrument. The recruiting otologists evaluated the severity of the disease and the disability caused by it. A control group was recruited. Based on the patients’ responses in different diagnosis groups, the items were reduced according to pre-defined criteria. The resulting survey was validated using a thorough statistical analysis.ResultsThe relevance and necessity of the original 24 items were thoroughly investigated, leading to the exclusion of 8 items and the modification of 1. The remaining 16 items were well-balanced between subdivisions and were useful in all seven diagnosis groups, thus constituting the final instrument, EOS-16. The most suitable recall period was three months.ConclusionsEOS-16 has been created according to the HRQoL survey guidelines with a versatile nationwide patient population. The survey has been validated and can be used for a wide range of chronic ear diseases as a HRQoL instrument.</p

Development of otology specific outcome measure:Ear Outcome Survey-16 (EOS-16)

Abstract Purpose: An important outcome measure of patient care is the impact on the patient’s health-related quality of life (HRQoL). Current ear-specific HRQoL instruments are designed for one diagnosis and emphasize different subdivisions such as symptoms, hearing problems, psychosocial impact, and the need for care. The optimal length of the recall period has not been studied. For these reasons, a new survey is needed that would cover most chronic ear diseases. Methods: A preliminary 24-item survey (EOS-24) was created. Untreated adult patients (included n = 186) with one of seven different chronic otologic conditions from all university hospitals in Finland were recruited to respond to EOS-24 and the 15D general HRQoL instrument. The recruiting otologists evaluated the severity of the disease and the disability caused by it. A control group was recruited. Based on the patients’ responses in different diagnosis groups, the items were reduced according to pre-defined criteria. The resulting survey was validated using a thorough statistical analysis. Results: The relevance and necessity of the original 24 items were thoroughly investigated, leading to the exclusion of 8 items and the modification of 1. The remaining 16 items were well-balanced between subdivisions and were useful in all seven diagnosis groups, thus constituting the final instrument, EOS-16. The most suitable recall period was three months. Conclusions: EOS-16 has been created according to the HRQoL survey guidelines with a versatile nationwide patient population. The survey has been validated and can be used for a wide range of chronic ear diseases as a HRQoL instrument