与视神经发育不全及视隔-视神经-垂体发育异常相关的疾病和合并症。

Morbidities and comorbidities associated with optic nerve hypoplasia and septo-optic-pituitary dysplasia.

作者信息

Salman Michael S, Ruth Chelsea A, Yogendran Marina S, Lix Lisa M

机构信息

Section of Pediatric Neurology, Department of Pediatrics and Child Health, Max Rady College of Medicine, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, Manitoba, Canada.

Section of Neonatology, Department of Pediatrics and Child Health, Max Rady College of Medicine, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, Manitoba, Canada.

出版信息

Dev Med Child Neurol. 2025 Jul;67(7):941-952. doi: 10.1111/dmcn.16235. Epub 2025 Jan 13.

DOI:10.1111/dmcn.16235

PMID:39804979

Abstract

AIM

To quantify optic nerve hypoplasia (ONH) and septo-optic-pituitary dysplasia (SOD) morbidities and comorbidities.

METHOD

A retrospective population-based study with a case-control design was undertaken using administrative health data from Manitoba, Canada. Cases were 124 patients with ONH or SOD (70 males, 54 females; age range 6 months-36 years 8 months [mean 13 years, SD 7 years 2 months]) diagnosed from 1990 to 2019, matched to 620 unrelated population-based controls (350 males, 270 females; age range 0-36 years 8 months [mean 12 years 5 months, SD 7 years 2 months]) on birth year, sex, and area of residence. Additionally, 76 cases with ONH or SOD (46 males, 30 females; age range 2 years 5 months-36 years 8 months [mean 13 years 11 months, SD 7 years 3 months]) were matched one-to-one with sibling controls (40 males, 36 females; age range 7 months-33 years 1 month [mean 11 years 8 months, SD 7 years 3 months]). We used χ or Fisher's exact tests to test for differences in prevalence in morbidities and comorbidities between cases and controls; odds ratios (ORs) with 95% confidence intervals (CIs) were estimated. Cox proportional hazards models were used to test for differences in subgroups of cases; hazard ratios and 95% CIs were estimated.

RESULTS

Visual impairment and visual impairment with hypopituitarism were core morbidities associated with ONH and SOD cases respectively compared to unrelated controls (OR = 58.6, 95% CI = 22.5-152.5; OR = 243.4, 95% CI = 32.9-1799.0 respectively). Developmental delay or intellectual disability (OR = 6.9, 95% CI = 3.3-14.4), autism spectrum disorder (OR = 4.0, 95% CI = 2.0-8.3), epilepsy (OR = 14.9, 95% CI = 6.1-36.5), cerebral palsy (OR = 40.9, 95% CI = 14.0-119.6), and mood or anxiety disorders (OR = 1.7, 95% CI = 1.0-2.8) were the comorbidities more common among cases with ONH and SOD. Cases matched to siblings showed similar results except for mood and anxiety disorders.

INTERPRETATION

Visual impairment and visual impairment with hypopituitarism are the main morbidities in patients with ONH and SOD respectively, while developmental delay or intellectual disability, autism spectrum disorder, epilepsy, cerebral palsy, and mood or anxiety disorders are important comorbidities.

摘要

目的

量化视神经发育不全（ONH）和视隔-视神经-垂体发育异常（SOD）的发病率及合并症。

方法

采用基于人群的回顾性病例对照研究，使用来自加拿大曼尼托巴省的行政卫生数据。病例为1990年至2019年诊断出的124例ONH或SOD患者（70例男性，54例女性；年龄范围6个月至36岁8个月[平均13岁，标准差7岁2个月]），根据出生年份、性别和居住地区与620名无亲属关系的人群对照（350例男性，270例女性；年龄范围0至36岁8个月[平均12岁5个月，标准差7岁2个月]）进行匹配。此外，76例ONH或SOD患者（46例男性，30例女性；年龄范围2岁5个月至36岁8个月[平均13岁11个月，标准差7岁3个月]）与同胞对照（40例男性，36例女性；年龄范围7个月至33岁1个月[平均11岁8个月，标准差7岁3个月]）进行一对一匹配。我们使用χ²检验或Fisher精确检验来检验病例与对照在发病率及合并症患病率上的差异；估计比值比（OR）及其95%置信区间（CI）。使用Cox比例风险模型来检验病例亚组间的差异；估计风险比及其95%CI。

结果

与无亲属关系的对照相比，视力障碍以及伴有垂体功能减退的视力障碍分别是与ONH和SOD病例相关的核心发病率（OR分别为58.6，95%CI为22.5 - 152.5；OR为243.4，95%CI为32.9 - 1799.0）。发育迟缓或智力残疾（OR为6.9，95%CI为3.3 - 14.4）、自闭症谱系障碍（OR为4.0，95%CI为2.0 - 8.3）、癫痫（OR为14.9，95%CI为6.1 - 36.5）、脑瘫（OR为40.9，95%CI为14.