Khaper Tanya, Bunge Martin, Clark Ian, Rafay Mubeen Fatima, Mhanni Aziz, Kirouac Nicole, Sharma Atul, Rodd Celia, Wicklow Brandy
Rady College of Medicine, University of Manitoba, Winnipeg, Manitoba.
Section of Pediatric Radiology, Children's Hospital of Winnipeg, University of Manitoba, Winnipeg, Manitoba.
Paediatr Child Health. 2017 Nov;22(8):445-453. doi: 10.1093/pch/pxx118. Epub 2017 Nov 19.
Owing to the shared embryonic origin, defects in development of optic nerves are often seen in conjunction with defects affecting the surrounding brain and pituitary gland. Optic nerve hypoplasia (ONH) and septo-optic dysplasia (SOD) represent a clinical spectrum associated with visual, pituitary and severe central nervous system structural abnormalities (SODplus). Based on changing clinical patterns, our primary objective was to examine trends in annual incidence of ONH/SOD and geographical clustering in Manitoba.
This was a retrospective 1996 to 2015 chart review with extraction of anthropometric measures, radiologic findings, parental characteristics, endocrinopathies and neurologic symptoms from all involved in care. Postal codes were used to assign map co-ordinates and identify relevant census-based deprivation indices.
Ninety-three children were identified in our catchment area; Poisson regression confirmed a striking 1.11-fold annual increase (95% confidence interval 1.07 to 1.16) or 800% over two decades. The annual incidence (averaged 2010 to 2014 chart data) reached 53.3 per 100,000, affecting 1 in 1875 live births. Most (55%) had SODplus. Common presenting features were hypoglycemia, nystagmus, seizures and developmental delay; 40% had hormone deficiencies; 80% had reduced visual acuity, typically bilateral. Many were premature with young, primiparous mothers. Unhealthy maternal lifestyles and severe material deprivation were noted. There was disproportionate clustering in individuals from Northern Manitoba at three times the average provincial rate.
We noted a dramatic rise in the annual incidence of ONH/SOD, which was strongly associated with poverty and northern communities. The pattern was consistent with environmental or nutritional etiologies. Many children were severely affected with increased morbidity and health care burdens.
由于视神经与周围脑和垂体具有共同的胚胎起源，视神经发育缺陷常与影响周围脑和垂体的缺陷同时出现。视神经发育不全（ONH）和视隔发育不良（SOD）代表了一种与视觉、垂体及严重中枢神经系统结构异常相关的临床谱系（SODplus）。基于不断变化的临床模式，我们的主要目标是研究曼尼托巴省ONH/SOD的年发病率趋势及地理聚集情况。
这是一项对1996年至2015年病历的回顾性研究，从所有参与治疗的患者中提取人体测量指标、影像学检查结果、父母特征、内分泌疾病及神经症状。使用邮政编码确定地图坐标并识别基于人口普查的相关贫困指数。
在我们的研究区域内共识别出93名儿童；泊松回归证实年增长率显著为1.11倍（95%置信区间为1.07至1.16），即二十年内增长约800%。年发病率（根据2010年至2014年病历数据平均）达到每10万人53.3例，即每1875例活产中有1例受影响。大多数（约55%）患有SODplus。常见的临床表现为低血糖、眼球震颤、癫痫发作和发育迟缓；40%有激素缺乏；80%视力下降，通常为双侧。许多患儿早产，母亲年轻且为初产妇。注意到母亲不健康的生活方式及严重的物质匮乏。来自曼尼托巴省北部的个体聚集比例过高，是全省平均水平的三倍。
我们注意到ONH/SOD的年发病率急剧上升，这与贫困和北部社区密切相关。这种模式与环境或营养病因一致。许多儿童受到严重影响，发病率和医疗负担增加。
