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Neuropediatrics 2018; 49(01): 026-034
DOI: 10.1055/s-0037-1607216
Original Article
Georg Thieme Verlag KG Stuttgart · New York

Neurovisual Assessment in Children with Ataxia Telangiectasia

Alessandro Iodice
1   Unit of Child Neurology and Psychiatry, ASST Spedali Civili, Brescia, Italy
,
Jessica Galli
1   Unit of Child Neurology and Psychiatry, ASST Spedali Civili, Brescia, Italy
2   Unit of Child Neurology and Psychiatry, Department of Clinical and Experimental Sciences, ASST Spedali Civili and University of Brescia, Brescia, Italy
,
Anna Molinaro
2   Unit of Child Neurology and Psychiatry, Department of Clinical and Experimental Sciences, ASST Spedali Civili and University of Brescia, Brescia, Italy
,
Alessandra Franzoni
3   Eye Clinic Department of Neurological Science and Vision, ASST Spedali Civili, Brescia, Italy
,
Roberto Micheli
1   Unit of Child Neurology and Psychiatry, ASST Spedali Civili, Brescia, Italy
,
Lorenzo Pinelli
4   Unit of Neuroradiology, Pediatric Neuroradiology Section, Spedali Civili, Brescia, Italy
,
Alessandro Plebani
5   Department of Clinical and Experimental Sciences, Pediatrics Clinic, ASST Spedali Civili and University of Brescia, Brescia, Italy
,
Annarosa Soresina
6   Pediatrics Clinic, ASST Spedali Civili, Brescia, Italy
,
Elisa Fazzi
1   Unit of Child Neurology and Psychiatry, ASST Spedali Civili, Brescia, Italy
2   Unit of Child Neurology and Psychiatry, Department of Clinical and Experimental Sciences, ASST Spedali Civili and University of Brescia, Brescia, Italy
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Publikationsverlauf

15. Juni 2017

28. August 2017

Publikationsdatum:
09. Oktober 2017 (online)

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Abstract

Aim Visual impairment is present in almost all patients with ataxia telangiectasia (AT) and, due to their early onset, constitute an important disabling aspect of the syndrome: the quality of vision is limited by dyspraxia and oculomotor abnormal movements. The purpose of this observational study was to describe visual disorders, notably oculomotor impairment, in a sample of children with AT.

Methods Fifteen AT patients (mean age 12 years and 4 months) underwent a neurovisual evaluation, particularly focused on oculomotor functions (fixation, smooth pursuit, saccades, and abnormal ocular movements). We compared the visual profile obtained with that described using the International Cooperative Ataxia Rating Scale (ICARS) subscale of oculomotor dysfunction.

Results Refractive errors were seen in eight patients and strabismus in three. Major oculomotor findings were fixation abnormalities (6/15), saccadic impairment (15/15), and abnormal smooth pursuit (14/15). Abnormal ocular movements were seen in 13/15 (saccadic intrusion in 8 and nystagmus in 5). Using ICARS scale, 13/15 children presented gaze-evoked nystagmus, 4/15 a clearly saccadic pursuit, and 11/15 dysmetria of saccades.

Discussion We propose a clinical neurovisual evaluation, which could be integrated with ICARS scores in the study of oculomotor involvement in AT pediatric patients. We strongly recommend the empowerment of visual functions to slow down progressive global disability of these patients.

Keywords

ataxia telangiectasia - neurovisual disorders - oculomotor dyspraxia - International Cooperative Ataxia Rating Scale

Supplementary Material

 

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