Vatlach Scarlet, Maas Christoph, Poets Christian F
Department of Neonatology, Tuebingen University Hospital, Calwerstr 7, Tuebingen 72076, Germany.
Orphanet J Rare Dis. 2014 Jan 17;9:9. doi: 10.1186/1750-1172-9-9.
We conducted a monthly epidemiological survey to determine the birth prevalence of Robin sequence (RS) and the use of various therapeutic approaches for it.
Between August 2011 and July 2012, every pediatric department in Germany was asked to report new admissions of infants with RS to the Surveillance Unit for Rare Pediatric Diseases in Germany. RS was defined as retro- or micrognathia and at least one of the following: clinically evident upper airway obstruction including recessions, snoring or hypoxemia; glossoptosis; feeding difficulties; failure to thrive; cleft palate or RS-associated syndrome. Hospitals reporting a case were asked to return an anonymized questionnaire and discharge letter.
Of 96 cases reported, we received detailed information on 91. Of these, 82 were included; seven were duplicates and two erroneous reports. Given 662,712 live births in Germany in 2011, the birth prevalence was 12.4 per 100,000 live births. Therapeutic approaches applied included prone positioning in 50 infants, followed by functional therapy in 47. Conventional feeding plates were used in 34 infants and the preepiglottic baton plate (PEBP) in 19. Surgical therapy such as mandibular traction was applied in 2 infants, tracheotomy in 3.
Compared to other cohort studies on RS, surgical procedures were relatively rarely used as an initial therapy for RS in Germany. This may be due to differences in phenotype or an underrecognition of upper airway obstruction in these infants.
我们开展了一项月度流行病学调查，以确定罗宾序列征（RS）的出生患病率及其各种治疗方法的使用情况。
在2011年8月至2012年7月期间，要求德国的每个儿科部门向德国罕见儿科疾病监测单位报告RS婴儿的新入院情况。RS的定义为下颌后缩或小颌畸形以及以下至少一项：临床上明显的上呼吸道梗阻，包括吸气性凹陷、打鼾或低氧血症；舌后坠；喂养困难；生长发育迟缓；腭裂或与RS相关的综合征。报告病例的医院被要求返回一份匿名问卷和出院小结。
在报告的96例病例中，我们收到了91例的详细信息。其中，82例被纳入；7例为重复病例，2例为错误报告。鉴于2011年德国有662,712例活产，出生患病率为每100,000例活产中有12.4例。应用的治疗方法包括50例婴儿采用俯卧位，其次是47例采用功能治疗。34例婴儿使用了传统喂养板，19例使用了会厌前棒状板（PEBP）。2例婴儿采用了下颌牵引等手术治疗，3例进行了气管切开术。
与其他关于RS的队列研究相比，在德国，手术程序相对较少被用作RS的初始治疗方法。这可能是由于表型差异或这些婴儿对上呼吸道梗阻认识不足所致。
