Abstract

ObjectivesTo assess the prevalence of behavioral problems in children with isolated optic nerve hypoplasia, mild to moderate or no visual impairment, and no developmental delay. To identify white matter abnormalities that may provide neural correlates for any behavioral abnormalities identified.Patients and MethodsEleven children with isolated optic nerve hypoplasia (mean age 5.9 years) underwent behavioral assessment and brain diffusion tensor imaging, Twenty four controls with isolated short stature (mean age 6.4 years) underwent MRI, 11 of whom also completed behavioral assessments. Fractional anisotropy images were processed using tract-based spatial statistics. Partial correlation between ventral cingulum, corpus callosum and optic radiation fractional anisotropy, and child behavioral checklist scores (controlled for age at scan and sex) was performed.ResultsChildren with optic nerve hypoplasia had significantly higher scores on the child behavioral checklist (p<0.05) than controls (4 had scores in the clinically significant range). Ventral cingulum, corpus callosum and optic radiation fractional anisotropy were significantly reduced in children with optic nerve hypoplasia. Right ventral cingulum fractional anisotropy correlated with total and externalising child behavioral checklist scores (r = −0.52, p<0.02, r = −0.46, p<0.049 respectively). There were no significant correlations between left ventral cingulum, corpus callosum or optic radiation fractional anisotropy and behavioral scores.ConclusionsOur findings suggest that children with optic nerve hypoplasia and mild to moderate or no visual impairment require behavioral assessment to determine the presence of clinically significant behavioral problems. Reduced structural integrity of the ventral cingulum correlated with behavioral scores, suggesting that these white matter abnormalities may be clinically significant. The presence of reduced fractional anisotropy in the optic radiations of children with mild to moderate or no visual impairment raises questions as to the pathogenesis of these changes which will need to be addressed by future studies.

Highlights

  • Children and adolescents with severe visual impairment (VI), secondary to varying etiologies, have a significantly increased prevalence of behavioral and social communication problems [1,2,3]

  • Corpus callosum and optic radiation fractional anisotropy were significantly reduced in children with optic nerve hypoplasia

  • There were no significant correlations between left ventral cingulum, corpus callosum or optic radiation fractional anisotropy and behavioral scores

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Summary

Introduction

Children and adolescents with severe visual impairment (VI), secondary to varying etiologies, have a significantly increased prevalence of behavioral and social communication problems [1,2,3]. Since the basic principles of DTI were established in the mid-1990s many clinical investigations have found that abnormalities in the white matter tracts of the brain can be identified in a wide range of pathological conditions (e.g. multiple sclerosis, growth hormone deficiency and depression) [13,14,15] They have enabled the identification of defects in conditions not classically associated with abnormalities on conventional neuroimaging, such as autism [16,17,18]. Whilst the increased prevalence of behavioral deficits found in children with ONH and severe VI may be related to their underlying visual impairment and reduced visual experience, we hypothesized that on the basis of the emerging literature regarding neuroimaging and social communication disorders such as autism [18], the underdevelopment of white matter tracts may contribute to the behavioral abnormalities found in this cohort

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