The Multidisciplinary Guidelines for Diagnosis and Referral in Cerebral Visual Impairment

Abstract

IntroductionCerebral 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.Patients and MethodsWe 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.ResultsBased 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).ConclusionIn 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 trans-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.

Frequency of Ocular Manifestations in Developmentally Delayed Children

“…Most children with CVI are developmentally delayed, and early diagnosis is crucial for rehabilitating these children. 11 In our study, CVI was seen in 65 children (21.6%). Damage to the visual parts of the brain due to any cause such as premature birth, insufficient oxygenation, antenatal or postnatal infection of the baby, brain malformation, hydrocephalus, seizure in infant life, and metabolic disease can result in CVI.…”

“…Undetected visual impairment combined with other handicaps is likely to have an adverse effect on development and may lead to an underestimation of intellectual ability. 11 Early identification of ocular findings in children with developmental delay helps to prevent or mitigate any adverse effects on visual and overall development, thus improving the quality of life. Ocular issues also affect a child's ability to learn and perform in school.…”

Motion and form coherence processing in individuals with cerebral visual impairment

“…All participants with CVI were previously diagnosed by eyecare professionals with extensive clinical experience working with this population. Diagnosis was based on a directed and objective assessment of visual functions (including visual acuity, contrast, visual field perimetry, color, and ocular motor functions), functional vision assessment (use of surveys, questionnaires, and activities), a thorough refractive and ocular examination, as well as an integrated review of medical history and available neuroimaging and electrophysiology records 4,10,21 . Causes of CVI were diverse and included hypoxic–ischemic injury related to preterm birth, periventricular leukomalacia, hypoxic–ischemic encephalopathy, seizure disorder, as well as genetic and metabolic disorders.…”

Assessment of Visual Function for Education: A Commentary on ‘VEP Visual Acuity in Children with Cortical Visual Impairment’

“…Hypoxicischemic Encephalopathy (HIE), Epilepsy, and Cerebral Palsy (CP) suggested that visual improvement over time was unlikely; more positively, interventions using physical therapy, occupational therapy, and refractive correction were associated with long-term visual improvement [14]. Early diagnosis is crucial [15] to allow for these interventions, and its standardization is necessary given the array of tests in current use. Five particularly important parameters are 1) Medical History; 2) Ophthalmological and Orthoptic assessment; 3) Neuropsychological assessment; 4) Neuroradiology and MRI; 5) Genetic Assessment.…”