Boonstra Frouke N, Bosch Daniëlle G M, Geldof Christiaan J A, Stellingwerf Catharina, Porro Giorgio
Royal Dutch Visio, National Foundation for the Visually Impaired and Blind, Huizen, Netherlands.
Department of Cognitive Neuroscience, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Centre Nijmegen, Nijmegen, Netherlands.
Front Hum Neurosci. 2022 Jun 30;16:727565. doi: 10.3389/fnhum.2022.727565. eCollection 2022.
Cerebral visual impairment (CVI) is an important cause of visual impairment in western countries. Perinatal hypoxic-ischemic damage is the most frequent cause of CVI but CVI can also be the result of a genetic disorder. The majority of children with CVI have cerebral palsy and/or developmental delay. Early diagnosis is crucial; however, there is a need for consensus on evidence based diagnostic tools and referral criteria. The aim of this study is to develop guidelines for diagnosis and referral in CVI according to the grade method.
We developed the guidelines according to the GRADE method 5 searches on CVI (children, developmental age ≤ 18 years) were performed in the databases Medline, Embase, and Psychinfo, each with a distinct topic.
Based on evidence articles were selected on five topics: 1. Medical history and CVI-questionnaires 23 (out of 1,007). 2. Ophthalmological and orthoptic assessment 37 (out of 816). 3. Neuropsychological assessment 5 (out of 716). 4. Neuroradiological evaluation and magnetic resonance imaging (MRI) 9 (out of 723). 5. Genetic assessment 5 (out of 458).
In medical history taking, prematurity low birth weight and APGAR (Appearance, Pulse, Grimace, Activity, Respiration) Scores (<5) are important. Different questionnaires are advised for children under the age of 3 years, older children and for specific risk groups (extremely preterm). In ophthalmological examination, eye movements, specially saccades, accommodation, crowding, contrast sensitivity and visual fields should be evaluated. OCT can show objective signs of -synaptic degeneration and abnormalities in fixation and saccades can be measured with eye tracking. Screening of visual perceptive functioning is recommended and can be directive for further assessment. MRI findings in CVI in Cerebral Palsy can be structured in five groups: Brain maldevelopment, white and gray matter lesions, postnatal lesions and a normal MRI. In children with CVI and periventricular leukomalacia, brain lesion severity correlates with visual function impairment. A differentiation can be made between cortical and subcortical damage and related visual function impairment. Additional assessments (neurological or genetic) can be necessary to complete the diagnosis of CVI and/or to reveal the etiology.
脑性视觉障碍（CVI）是西方国家视力障碍的一个重要原因。围产期缺氧缺血性损伤是CVI最常见的病因，但CVI也可能是遗传疾病的结果。大多数患有CVI的儿童同时患有脑瘫和/或发育迟缓。早期诊断至关重要；然而，对于基于证据的诊断工具和转诊标准，需要达成共识。本研究的目的是根据分级方法制定CVI的诊断和转诊指南。
我们根据GRADE方法制定指南，在Medline、Embase和Psychinfo数据库中对CVI（发育年龄≤18岁的儿童）进行了5项检索，每项检索都有一个独特的主题。
基于证据，从五个主题中选择了相关文章：1.病史和CVI问卷23篇（共1007篇）。2.眼科和视光学评估37篇（共816篇）。3.神经心理学评估5篇（共716篇）。4.神经放射学评估和磁共振成像（MRI）9篇（共723篇）。5.基因评估5篇（共458篇）。
在病史采集方面，早产、低出生体重和阿氏评分（外观、脉搏、 grimace、活动、呼吸）（<5分）很重要。建议针对3岁以下儿童、大龄儿童和特定风险组（极早产儿）使用不同的问卷。在眼科检查中，应评估眼球运动，特别是扫视运动、调节功能、拥挤现象、对比敏感度和视野。光学相干断层扫描（OCT）可以显示突触变性的客观体征，眼球跟踪可以测量注视和扫视运动的异常。建议进行视觉感知功能筛查，这可为进一步评估提供指导。脑瘫患者CVI的MRI表现可分为五组：脑发育异常、白质和灰质病变、产后病变以及MRI正常。在患有CVI和脑室周围白质软化症的儿童中，脑损伤严重程度与视觉功能损害相关。可以区分皮质和皮质下损伤以及相关的视觉功能损害。可能需要进行额外的评估（神经学或遗传学）以完成CVI的诊断和/或揭示病因。
