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The Epidemiology of Moebius Syndrome CURRENT STATUS: UNDER REVIEW

Background: The epidemiology of Moebius Syndrome is actually unknown. In the present study we have investigated the epidemiology of MBS in a well defined population over a precise geographical area. Materials and Methods: Our University Hospital is the only national referral centre for the diagnosis and treatment of MBS. Participants to this cross sectional study are patients affected by MBS which have been periodically followed by our medical staff since 1998. Most of the patients were referred to our hospital by the Italian Association of Moebius Syndrome (AISMO). Demographic data necessary for our purposes were made available by AISMO database updated to April 2018. Subjects were assigned to the geographical macro-areas which are the ones conventionally used for surveys and epidemiological investigations by the Italian National Institute of Statistics. Rates and prevalence of the MBS cases were calculated referring to the last survey of the Italian population of 2018. Every study parameter was then calculated by reference to the whole country and to macro-area partition. Gender rate and the corresponding prevalence were calculated with respect to the weighted whole population and to the respective gender population. Chi-square (c 2 ) analysis was adopted to investigate possible differences among geographical regions and/or gender. A p value <0.05 was considered statistically significant. Results: 164 out of 212 MBS patients satisfied our inclusion criteria. All cases were Caucasian and sporadic. The median age at diagnosis was 3.6 years (range: 0-55); this range was significantly reduced to 0-5 years (median age at diagnosis: 2.2 years) for patients evaluated after 2007. The birth prevalence calculated was 0.06 cases per 10,000 live births with an overall prevalence of 0.27/100000 without any gender or geographical predisposition. Conclusions: The rate of MBS prevalence herein observed, rounded for possible underestimation, is 0.3/100000 people without any geographical difference in the distribution of the cases. According to our data, MBS must be considered a rare disease but not so rare as previously postulated by researchers on their personal basis.