Rekonstruktiv plastikkirurgi
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Facialispares
Huvud-hals-cancer och mikrokirurgis rekonstruktion
Kolorektal
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Medfödda missbildningar
a. Läpp käk och gomspalt
b. Mikroti
The term microtia describes a spectrum of congenital anomalies of the auricle of the ear. These can range from mild structural abnormalities to complete absence of the ear (anotia). Previous population-based studies show a wide range in prevalence of microtia, depending on geographical region. Prevalence ranges between 0.83 and 4.34 per 10,000 births. (1) Bilateral microtia is more often associated with other anomalies or syndromes. (2) To date, no causal genetic mutation has been associated with isolated microtia, although individual gene mutations have been identified in syndromic cases. Sporadic cases are likely to be multifactorial. Suggested risk factors for microtia include male sex, low birth weight, advanced maternal age, high parity (>4), maternal diabetes mellitus, and Hispanic ethnicity. (1, 2) There is also some evidence for an association between intrauterine exposure to certain medications, including well-known teratogens such as retinoids and thalidomide. (3)
The occurrence of microtia is of public health concern for several reasons. It is a highly visible condition and is associated with potential psychosocial sequelae and stigma, as well as the burden of undergoing multiple surgeries. (4, 5, 6) In addition to the aesthetic considerations, associated moderate to severe hearing loss may affect communication, exacerbating psychosocial problems. The societal cost associated with managing microtia, and the possible sequelae, are likely to be considerable due to the need for management of hearing impairment and the need for multiple surgical procedures.
The availability of comprehensive patient registers in Sweden presents a unique opportunity to study this relatively rare congenital anomaly.
This PhD research project is divided into five sub-studies:
Prevalence and birth characteristics of patients with microtia in Sweden
This registry-based cohort study will study birth prevalence, abortion trends and survival over time in Sweden for children with microtia. It will describe birth characteristics of the children and other possible associated malformations/syndromes as well as the prevalence of hearing loss.
Maternal risk factors for microtia
This case-control study will investigate possible risk factors in pregnancy and risk of microtia in the foetus compared to controls.
The risk of neuropsychiatric disorders in individuals born with microtia
This case-control study will study the risk of developing a neuropsychiatric diagnosis in individuals born with microtia compared to controls.
Education level and socio-economic status in individuals with microtia
This case-control study will study the educational level and socio-economic status of people born with microtia with the aim of mapping the highest educational attainment and wage level of individuals born with microtia, as a proxy for the long-term psycho-social impact of the malformation.
Quality of life in patients with microtia
This prospective cohort study will review the Stockholm cohort of microtia patients between 2000-2023 to study quality of life through validated questionnaires. The results from the different domains of quality of life will be compared in groups with individuals who have undergone ear reconstruction surgery, patients with microtia who have opted against reconstruction and healthy individuals' estimation of the same form.
Through this epidemiological and long-term follow-up project we hope to identify risk factors, co-morbidities, and the possible long-term impact of the congenital malformation microtia. Microtia is a relatively uncommon condition and large studies are challenging. However, due to the extensive data available to us through national patient registries in Sweden we hope to be able to describe one of the largest cohorts in the literature. The research contained within this project will contribute to increasing knowledge about the underlying causes and the long-term consequences of being born with microtia. We hope to identify preventive measures and thus be able to provide better and more accurate information in future pre- and post-natal counselling. This is of great significance for affected children and their families as well as leading to potential healthcare financial benefits.
References
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